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    GPANK1 G-patch domain and ankyrin repeats 1 [ Homo sapiens (human) ]

    Gene ID: 7918, updated on 3-Apr-2024

    Summary

    Official Symbol
    GPANK1provided by HGNC
    Official Full Name
    G-patch domain and ankyrin repeats 1provided by HGNC
    Primary source
    HGNC:HGNC:13920
    See related
    Ensembl:ENSG00000204438 MIM:142610; AllianceGenome:HGNC:13920
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    G5; BAT4; D6S54E; ANKRD59; GPATCH10
    Summary
    This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2010]
    Expression
    Ubiquitous expression in testis (RPKM 11.3), ovary (RPKM 5.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    6p21.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (31661228..31666283, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (31514261..31519317, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (31629005..31634060, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene BAG cochaperone 6 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31619887-31620466 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31620467-31621046 Neighboring gene apolipoprotein M Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31627653-31628190 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31628191-31628727 Neighboring gene chromosome 6 open reading frame 47 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:31633065-31633659 Neighboring gene casein kinase 2 beta Neighboring gene lymphocyte antigen 6 family member G5B Neighboring gene ReSE screen-validated silencer GRCh37_chr6:31647890-31648097 Neighboring gene lymphocyte antigen 6 family member G5C

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Common variants associated with general and MMR vaccine-related febrile seizures.
    EBI GWAS Catalog
    Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    G patch domain and ankyrin repeat-containing protein 1
    Names
    G patch domain and ankyrin repeats-containing protein 1
    G patch domain containing 10
    HLA-B-associated transcript 4
    ankyrin repeat domain-containing protein 59
    g patch domain-containing protein 10
    protein BAT4
    protein G5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001199237.1NP_001186166.1  G patch domain and ankyrin repeat-containing protein 1

      See identical proteins and their annotated locations for NP_001186166.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript.
      Source sequence(s)
      AK123707, AL662899
      Consensus CDS
      CCDS4711.1
      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2, B2RA66
      Related
      ENSP00000365071.1, ENST00000375906.5
      Conserved Domains (3) summary
      sd00045
      Location:142174
      ANK; ANK repeat [structural motif]
      pfam01585
      Location:256299
      G-patch; G-patch domain
      pfam12796
      Location:108195
      Ank_2; Ankyrin repeats (3 copies)
    2. NM_001199238.1NP_001186167.1  G patch domain and ankyrin repeat-containing protein 1

      See identical proteins and their annotated locations for NP_001186167.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.
      Source sequence(s)
      AK123707, AK314056, AL662899, BC018875
      Consensus CDS
      CCDS4711.1
      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2, B2RA66
      Related
      ENSP00000365065.4, ENST00000375900.8
      Conserved Domains (3) summary
      sd00045
      Location:142174
      ANK; ANK repeat [structural motif]
      pfam01585
      Location:256299
      G-patch; G-patch domain
      pfam12796
      Location:108195
      Ank_2; Ankyrin repeats (3 copies)
    3. NM_001199239.1NP_001186168.1  G patch domain and ankyrin repeat-containing protein 1

      See identical proteins and their annotated locations for NP_001186168.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.
      Source sequence(s)
      AK123707, AK314056, AL662899, BC018875
      Consensus CDS
      CCDS4711.1
      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2, B2RA66
      Related
      ENSP00000365059.2, ENST00000375895.6
      Conserved Domains (3) summary
      sd00045
      Location:142174
      ANK; ANK repeat [structural motif]
      pfam01585
      Location:256299
      G-patch; G-patch domain
      pfam12796
      Location:108195
      Ank_2; Ankyrin repeats (3 copies)
    4. NM_001199240.1NP_001186169.1  G patch domain and ankyrin repeat-containing protein 1

      See identical proteins and their annotated locations for NP_001186169.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.
      Source sequence(s)
      AJ420471, AK123707, AK314056, AL662899
      Consensus CDS
      CCDS4711.1
      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2, B2RA66
      Related
      ENSP00000365057.2, ENST00000375893.6
      Conserved Domains (3) summary
      sd00045
      Location:142174
      ANK; ANK repeat [structural motif]
      pfam01585
      Location:256299
      G-patch; G-patch domain
      pfam12796
      Location:108195
      Ank_2; Ankyrin repeats (3 copies)
    5. NM_033177.4NP_149417.1  G patch domain and ankyrin repeat-containing protein 1

      See identical proteins and their annotated locations for NP_149417.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.
      Source sequence(s)
      AK123707, AL662899, BC018875
      Consensus CDS
      CCDS4711.1
      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2, B2RA66
      Related
      ENSP00000365060.4, ENST00000375896.9
      Conserved Domains (3) summary
      sd00045
      Location:142174
      ANK; ANK repeat [structural motif]
      pfam01585
      Location:256299
      G-patch; G-patch domain
      pfam12796
      Location:108195
      Ank_2; Ankyrin repeats (3 copies)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      31661228..31666283 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446549.2XP_024302317.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2, B2RA66
      Conserved Domains (3) summary
      sd00045
      Location:142174
      ANK; ANK repeat [structural motif]
      pfam01585
      Location:256299
      G-patch; G-patch domain
      pfam12796
      Location:108195
      Ank_2; Ankyrin repeats (3 copies)
    2. XM_005249403.4XP_005249460.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005249460.1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2, B2RA66
      Conserved Domains (3) summary
      sd00045
      Location:142174
      ANK; ANK repeat [structural motif]
      pfam01585
      Location:256299
      G-patch; G-patch domain
      pfam12796
      Location:108195
      Ank_2; Ankyrin repeats (3 copies)
    3. XM_006715204.2XP_006715267.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006715267.1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2, B2RA66
      Conserved Domains (3) summary
      sd00045
      Location:142174
      ANK; ANK repeat [structural motif]
      pfam01585
      Location:256299
      G-patch; G-patch domain
      pfam12796
      Location:108195
      Ank_2; Ankyrin repeats (3 copies)
    4. XM_047419350.1XP_047275306.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    5. XM_011514910.2XP_011513212.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011513212.1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2, B2RA66
      Conserved Domains (3) summary
      sd00045
      Location:142174
      ANK; ANK repeat [structural motif]
      pfam01585
      Location:256299
      G-patch; G-patch domain
      pfam12796
      Location:108195
      Ank_2; Ankyrin repeats (3 copies)
    6. XM_011514909.2XP_011513211.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011513211.1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2, B2RA66
      Conserved Domains (3) summary
      sd00045
      Location:142174
      ANK; ANK repeat [structural motif]
      pfam01585
      Location:256299
      G-patch; G-patch domain
      pfam12796
      Location:108195
      Ank_2; Ankyrin repeats (3 copies)
    7. XM_047419351.1XP_047275307.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      3138518..3143574 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329902.1XP_054185877.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7R4
    2. XM_054329900.1XP_054185875.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7R4
    3. XM_054329904.1XP_054185879.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7R4
    4. XM_054329903.1XP_054185878.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7R4
    5. XM_054329901.1XP_054185876.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7R4

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      2908999..2914055 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330396.1XP_054186371.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JHL1
    2. XM_054330392.1XP_054186367.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JHL1
    3. XM_054330394.1XP_054186369.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JHL1
    4. XM_054330395.1XP_054186370.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JHL1
    5. XM_054330393.1XP_054186368.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A0G2JHL1

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      2966275..2971330 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330677.1XP_054186652.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    2. XM_054330673.1XP_054186648.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    3. XM_054330676.1XP_054186651.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    4. XM_054330679.1XP_054186654.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    5. XM_054330678.1XP_054186653.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    6. XM_054330675.1XP_054186650.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    7. XM_054330674.1XP_054186649.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      3003100..3008155 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330886.1XP_054186861.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    2. XM_054330882.1XP_054186857.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    3. XM_054330885.1XP_054186860.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    4. XM_054330888.1XP_054186863.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    5. XM_054330887.1XP_054186862.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    6. XM_054330884.1XP_054186859.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    7. XM_054330883.1XP_054186858.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      2917046..2922107 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331168.1XP_054187143.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7R4
    2. XM_054331169.1XP_054187144.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7R4
    3. XM_054331171.1XP_054187146.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7R4
    4. XM_054331172.1XP_054187147.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7R4
    5. XM_054331170.1XP_054187145.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7R4

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      2960505..2965567 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331407.1XP_054187382.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7R4
    2. XM_054331408.1XP_054187383.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7R4
    3. XM_054331410.1XP_054187385.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7R4
    4. XM_054331411.1XP_054187386.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7R4
    5. XM_054331409.1XP_054187384.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A0A1U9X7R4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      31514261..31519317 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356408.1XP_054212383.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    2. XM_054356402.1XP_054212377.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    3. XM_054356407.1XP_054212382.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    4. XM_054356406.1XP_054212381.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    5. XM_054356405.1XP_054212380.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    6. XM_054356404.1XP_054212379.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2
    7. XM_054356403.1XP_054212378.1  G patch domain and ankyrin repeat-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NG25, B0UXA2, O95872, Q5SQ49
      UniProtKB/TrEMBL
      A0A024RCU2