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ZAN zonadhesin [ Homo sapiens (human) ]

Gene ID: 7455, updated on 22-Aug-2020

Summary

Official Symbol
ZANprovided by HGNC
Official Full Name
zonadhesinprovided by HGNC
Primary source
HGNC:HGNC:12857
See related
Ensembl:ENSG00000146839 MIM:602372
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
Summary
This gene encodes a protein that functions in the species specificity of sperm adhesion to the egg zona pellucida. The encoded protein is located in the acrosome and may be involved in signaling or gamete recognition. An allelic polymorphism in this gene results in both functional and frameshifted alleles; the reference genome represents the functional allele. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2015]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See ZAN in Genome Data Viewer
Location:
7q22.1
Exon count:
48
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (100733595..100797797)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100331249..100395419)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene POP7 homolog, ribonuclease P/MRP subunit Neighboring gene erythropoietin Neighboring gene EPH receptor B4 Neighboring gene RNA, 7SL, cytoplasmic 750, pseudogene Neighboring gene solute carrier family 12 member 9 Neighboring gene SLC12A9 antisense RNA 1 Neighboring gene uncharacterized LOC107986830

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
binding of sperm to zona pellucida NAS
Non-traceable Author Statement
more info
PubMed 
cell-cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_029544.2 RefSeqGene

    Range
    4970..69172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003386.3NP_003377.2  zonadhesin isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) encodes the longer isoform (3).
    Source sequence(s)
    AC009488, AF332977, AK302596
    Consensus CDS
    CCDS47664.2
    UniProtKB/Swiss-Prot
    Q9Y493
    UniProtKB/TrEMBL
    A0A087WU49, B4DYT6
    Related
    ENSP00000480750.1, ENST00000613979.5
    Conserved Domains (8) summary
    smart00832
    Location:13491423
    C8; This domain contains 8 conserved cysteine residues
    pfam00008
    Location:27122740
    EGF; EGF-like domain
    pfam00094
    Location:11561308
    VWD; von Willebrand factor type D domain
    pfam00629
    Location:373535
    MAM; MAM domain, meprin/A5/mu
    pfam01826
    Location:14261479
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam08742
    Location:17421808
    C8; C8 domain
    pfam12714
    Location:22692320
    TILa; TILa domain
    cl26464
    Location:5401022
    Atrophin-1; Atrophin-1 family
  2. NM_173059.3NP_775082.2  zonadhesin isoform 6 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate splice site and lacks two alternate exons, resulting in the loss of an in-frame segment in the 3' coding region, compared to variant 3. The encoded isoform (6) is 91 aa shorter than isoform 3.
    Source sequence(s)
    AC009488, AF332980, AK302596
    Consensus CDS
    CCDS47663.2
    UniProtKB/Swiss-Prot
    Q9Y493
    UniProtKB/TrEMBL
    B4DYT6, F5H0T8
    Related
    ENSP00000481742.1, ENST00000620596.4
    Conserved Domains (10) summary
    cd06263
    Location:41202
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    smart00832
    Location:25432617
    C8; This domain contains 8 conserved cysteine residues
    pfam00008
    Location:26212649
    EGF; EGF-like domain
    pfam00094
    Location:11561308
    VWD; von Willebrand factor type D domain
    pfam00629
    Location:373536
    MAM; MAM domain, meprin/A5/mu
    pfam01826
    Location:14261479
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam05177
    Location:681792
    RCSD; RCSD region
    pfam08742
    Location:17381808
    C8; C8 domain
    pfam12714
    Location:22692320
    TILa; TILa domain
    pfam15950
    Location:839992
    DUF4758; Domain of unknown function (DUF4758)

RNA

  1. NR_111917.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' region, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC009488, AF332976, AK302596
    Related
    ENST00000542585.5
  2. NR_111918.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site and lacks an alternate exon in the 3' region, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC009488, AF332978, AK302596
    Related
    ENST00000538115.5
  3. NR_111919.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate exon in the 3' region, compared to variant 3. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC009488, AF332979, AK302596
    Related
    ENST00000546213.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    100733595..100797797
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516555.2XP_011514857.1  zonadhesin isoform X2

    Conserved Domains (9) summary
    cd06263
    Location:41202
    MAM; Meprin, A5 protein, and protein tyrosine phosphatase Mu (MAM) domain. MAM is an extracellular domain which mediates protein-protein interactions and is found in a diverse set of proteins, many of which are known to function in cell adhesion. Members ...
    smart00832
    Location:23192393
    C8; This domain contains 8 conserved cysteine residues
    pfam00008
    Location:23972425
    EGF; EGF-like domain
    pfam00094
    Location:9321084
    VWD; von Willebrand factor type D domain
    pfam00629
    Location:373536
    MAM; MAM domain, meprin/A5/mu
    pfam01826
    Location:12021255
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam08742
    Location:15141584
    C8; C8 domain
    pfam12714
    Location:20452096
    TILa; TILa domain
    pfam15950
    Location:676789
    DUF4758; Domain of unknown function (DUF4758)
  2. XM_017012581.1XP_016868070.1  zonadhesin isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_173055.1: Suppressed sequence

    Description
    NM_173055.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_173056.1: Suppressed sequence

    Description
    NM_173056.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  3. NM_173057.1: Suppressed sequence

    Description
    NM_173057.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  4. NM_173058.1: Suppressed sequence

    Description
    NM_173058.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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