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

Gene ID: 168391, updated on 30-Mar-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
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Genomic context

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See GALNTL5 in Genome Data Viewer
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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