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ZAN zonadhesin (gene/pseudogene) [ Homo sapiens (human) ]

Gene ID: 7455, updated on 7-May-2016
Official Symbol
ZANprovided by HGNC
Official Full Name
zonadhesin (gene/pseudogene)provided by HGNC
Primary source
HGNC:HGNC:12857
See related
Ensembl:ENSG00000146839 HPRD:03846; MIM:602372; Vega:OTTHUMG00000157037
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]
Orthologs
Location:
7q22
Exon count:
48
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (100733583..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 uncharacterized LOC105375430 Neighboring gene solute carrier family 12 member 9

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
NHGRI GWA Catalog

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 
single organismal cell-cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 

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
    5001..69172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003386.2NP_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
    UniProtKB/Swiss-Prot
    Q9Y493
    UniProtKB/TrEMBL
    A0A087WU49, B4DYT6
    Related
    ENSP00000480750, OTTHUMP00000276005, ENST00000613979, OTTHUMT00000347209
    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 ...
    pfam12714
    Location:22682324
    TILa; TILa domain
    smart00216
    Location:11451307
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:17371809
    C8; This domain contains 8 conserved cysteine residues
    cd00054
    Location:27152743
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00629
    Location:41204
    MAM; MAM domain
    pfam01826
    Location:14261479
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam05177
    Location:720793
    RCSD; RCSD region
    pfam08742
    Location:21342208
    C8; C8 domain
    pfam15310
    Location:8741005
    VAD1-2; Vitamin A-deficiency (VAD) rat model signalling
  2. NM_173059.2NP_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
    UniProtKB/Swiss-Prot
    Q9Y493
    UniProtKB/TrEMBL
    B4DYT6, F5H0T8
    Related
    ENSP00000481742, OTTHUMP00000276009, ENST00000620596, OTTHUMT00000347214
    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 ...
    pfam12714
    Location:22682324
    TILa; TILa domain
    smart00216
    Location:11451307
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:25432617
    C8; This domain contains 8 conserved cysteine residues
    cd00054
    Location:26172652
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00629
    Location:41204
    MAM; MAM domain
    pfam01826
    Location:14261479
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam05177
    Location:720793
    RCSD; RCSD region
    pfam08742
    Location:21342208
    C8; C8 domain
    pfam15310
    Location:8741005
    VAD1-2; Vitamin A-deficiency (VAD) rat model signalling

RNA

  1. NR_111917.1 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, OTTHUMT00000347213
  2. NR_111918.1 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, OTTHUMT00000347211
  3. NR_111919.1 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, OTTHUMT00000347212

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    100733583..100797797
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516555.1XP_011514857.1  

    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 ...
    pfam12714
    Location:20442100
    TILa; TILa domain
    smart00216
    Location:9211083
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:23192393
    C8; This domain contains 8 conserved cysteine residues
    cd00054
    Location:23932428
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    pfam00629
    Location:41204
    MAM; MAM domain
    pfam01826
    Location:12021255
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam08742
    Location:19101984
    C8; C8 domain
    pfam15310
    Location:678781
    VAD1-2; Vitamin A-deficiency (VAD) rat model signalling
  2. XM_011516553.1XP_011514855.1  

    Conserved Domains (6) summary
    pfam12714
    Location:14501506
    TILa; TILa domain
    smart00216
    Location:327489
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:919991
    C8; This domain contains 8 conserved cysteine residues
    pfam01826
    Location:608661
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam08742
    Location:13161390
    C8; C8 domain
    pfam15310
    Location:56187
    VAD1-2; Vitamin A-deficiency (VAD) rat model signalling
  3. XM_011516554.1XP_011514856.1  

    Conserved Domains (6) summary
    pfam12714
    Location:277330
    TILa; TILa domain
    smart00216
    Location:327489
    VWD; von Willebrand factor (vWF) type D domain
    smart00832
    Location:919991
    C8; This domain contains 8 conserved cysteine residues
    pfam01826
    Location:608661
    TIL; Trypsin Inhibitor like cysteine rich domain
    pfam08742
    Location:13161390
    C8; C8 domain
    pfam15310
    Location:56187
    VAD1-2; Vitamin A-deficiency (VAD) rat model signalling

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    100261555..100326004
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.