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    GALNTL5 polypeptide N-acetylgalactosaminyltransferase like 5 [ Homo sapiens (human) ]

    Gene ID: 168391, updated on 5-May-2024

    Summary

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    Official Symbol
    GALNTL5provided by HGNC
    Official Full Name
    polypeptide N-acetylgalactosaminyltransferase like 5provided by HGNC
    Primary source
    HGNC:HGNC:21725
    See related
    Ensembl:ENSG00000106648 MIM:615133; AllianceGenome:HGNC:21725
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GALNT15; GALNACT19; GalNAc-T5L
    Summary
    Predicted to enable metal ion binding activity and transferase activity. Involved in spermatid development. Predicted to be located in late endosome membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 6.9) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7q36.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (151956446..152019929)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (153129390..153192856)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (151653531..151717014)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375570 Neighboring gene MPRA-validated peak6850 silencer Neighboring gene uncharacterized LOC105375571 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:151685205-151685733 Neighboring gene Sharpr-MPRA regulatory region 5574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18829 Neighboring gene NANOG hESC enhancer GRCh37_chr7:151735547-151736048 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 11 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:151778343-151779337 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:151804574-151805773 Neighboring gene uncharacterized LOC731075 Neighboring gene Y-box binding protein 1 pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mutation of GALNTL5 gene identified in patients diagnosed with asthenozoospermia. Hagiuda J, et al. Hum Fertil (Camb), 2020 Dec. PMID 30628500
    2. A heterozygous mutation of GALNTL5 affects male infertility with impairment of sperm motility. Takasaki N, et al. Proc Natl Acad Sci U S A, 2014 Jan 21. PMID 24398516, Free PMC Article
    3. PAK4 promotes kinase-independent stabilization of RhoU to modulate cell adhesion. Dart AE, et al. J Cell Biol, 2015 Nov 23. PMID 26598620, Free PMC Article
    4. The DNA sequence of human chromosome 7. Hillier LW, et al. Nature, 2003 Jul 10. PMID 12853948
    5. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mutation of GALNTL5 gene identified in patients diagnosed with asthenozoospermia.
      Title: Mutation of GALNTL5 gene identified in patients diagnosed with asthenozoospermia.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables glycosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    NOT involved_in protein glycosylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in spermatid development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatid development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5
    Names
    UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 15
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5
    galNAc-T15
    polypeptide GalNAc transferase 15
    polypeptide GalNAc transferase-like 5
    pp-GaNTase 15
    protein-UDP acetylgalactosaminyltransferase 15
    putative polypeptide N-acetylgalactosaminyltransferase-like protein 5
    testis tissue sperm-binding protein Li 61n
    NP_660335.2
    XP_006715925.1
    XP_011514151.1
    XP_011514155.1
    XP_016867282.1
    XP_016867283.1
    XP_016867284.1
    XP_016867285.1
    XP_047275889.1
    XP_054213351.1
    XP_054213352.1
    XP_054213353.1
    XP_054213354.1
    XP_054213355.1
    XP_054213356.1
    XP_054213357.1
    XP_054213358.1

    NCBI Reference Sequences (RefSeq)

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    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_145292.4 → NP_660335.2  inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5

      See identical proteins and their annotated locations for NP_660335.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the functional protein.
      Source sequence(s)
      AC074257, AW103179, BC022021
      Consensus CDS
      CCDS5929.1
      UniProtKB/Swiss-Prot
      Q75KN2, Q75MD3, Q7Z4T8, Q8NCV4, Q8WW05, Q9UDR9
      Related
      ENSP00000376548.2, ENST00000392800.7
      Conserved Domains (2) summary
      cd02510
      Location:137 → 433
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      COG1216
      Location:134 → 384
      GT2; Glycosyltransferase, GT2 family [Carbohydrate transport and metabolism]

    RNA

    1. NR_033169.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC074257, AK315667, AW103179
      Related
      ENST00000426341.6

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      151956446..152019929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715862.5 → XP_006715925.1  inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 isoform X2

      See identical proteins and their annotated locations for XP_006715925.1

      UniProtKB/Swiss-Prot
      Q75KN2, Q75MD3, Q7Z4T8, Q8NCV4, Q8WW05, Q9UDR9
      Related
      ENSP00000392582.2, ENST00000431418.6
      Conserved Domains (2) summary
      cd02510
      Location:137 → 433
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      COG1216
      Location:134 → 384
      GT2; Glycosyltransferase, GT2 family [Carbohydrate transport and metabolism]

    2. XM_017011796.2 → XP_016867285.1  inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 isoform X8

    3. XM_017011795.2 → XP_016867284.1  inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 isoform X7

    4. XM_047419933.1 → XP_047275889.1  inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 isoform X6

    5. XM_017011793.3 → XP_016867282.1  inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 isoform X1

      Conserved Domains (2) summary
      cd02510
      Location:190 → 486
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      COG1216
      Location:187 → 437
      GT2; Glycosyltransferase, GT2 family [Carbohydrate transport and metabolism]

    6. XM_017011794.1 → XP_016867283.1  inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 isoform X5

    7. XM_011515849.4 → XP_011514151.1  inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 isoform X3

      Conserved Domains (2) summary
      cd02510
      Location:64 → 360
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      COG1215
      Location:57 → 285
      BcsA; Glycosyltransferase, catalytic subunit of cellulose synthase and poly-beta-1,6-N-acetylglucosamine synthase [Cell motility]

    8. XM_011515853.3 → XP_011514155.1  inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 isoform X4

      See identical proteins and their annotated locations for XP_011514155.1

      Conserved Domains (2) summary
      cd02510
      Location:26 → 322
      pp-GalNAc-T; pp-GalNAc-T initiates the formation of mucin-type O-linked glycans
      COG1215
      Location:19 → 247
      BcsA; Glycosyltransferase, catalytic subunit of cellulose synthase and poly-beta-1,6-N-acetylglucosamine synthase [Cell motility]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      153129390..153192856
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357377.1 → XP_054213352.1  inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 isoform X2

      UniProtKB/TrEMBL
      A0A090N7Y5

    2. XM_054357383.1 → XP_054213358.1  inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 isoform X8

    3. XM_054357382.1 → XP_054213357.1  inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 isoform X7

    4. XM_054357381.1 → XP_054213356.1  inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 isoform X6

    5. XM_054357376.1 → XP_054213351.1  inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 isoform X1

    6. XM_054357380.1 → XP_054213355.1  inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 isoform X5

    7. XM_054357378.1 → XP_054213353.1  inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 isoform X3

    8. XM_054357379.1 → XP_054213354.1  inactive polypeptide N-acetylgalactosaminyltransferase-like protein 5 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z4T8.3 GenPept UniProtKB/Swiss-Prot:Q7Z4T8

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