Reviewed,
UniProtKB/Swiss-Prot Q9Y493 (ZAN_HUMAN)
Last modified
March 2, 2010.
Version 93.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Zonadhesin | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Complete proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 2812 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at transcript level. |
General annotation (Comments)
| Function | Binds in a species-specific manner to the zona pellucida of the egg. May be involved in gamete recognition and/or signaling. |
| Subunit structure | Probably forms covalent oligomers. |
| Subcellular location | Cell membrane; Single-pass type I membrane protein. Note: Exclusively on the apical region of the sperm head By similarity. |
| Tissue specificity | In testis, primarily in haploid spermatids. |
| Domain | The MAM domains probably mediate sperm adhesion to the zona pellucida. During sperm migration through the reproductive tracts, the mucin-like domain might inhibit inappropriate trapping of spermatozoa or promoting adhesion to the oviductal isthmus. The VWFD domain 2 may mediate covalent oligomerization By similarity. |
| Sequence similarities | Contains 1 EGF-like domain. Contains 3 MAM domains. Contains 4 TIL (trypsin inhibitory-like) domains. Contains 5 VWFC domains. Contains 4 VWFD domains. |
| Sequence caution | The sequence AAC78790.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Cell adhesion |
| Cellular component | Cell membrane Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | EGF-like domain Repeat Signal Transmembrane |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome |
| Gene Ontology (GO) | |
| Biological process | binding of sperm to zona pellucida Ref.5 Non-traceable author statement. Source: UniProtKB cell-cell adhesion Ref.5Non-traceable author statement. Source: UniProtKB |
| Cellular component | integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW plasma membrane Ref.5Non-traceable author statement. Source: UniProtKB |
| Molecular function | protein binding Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 7 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 3 (identifier: Q9Y493-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 1 (identifier: Q9Y493-2) The sequence of this isoform differs from the canonical sequence as follows: 2597-2724: HGVSSRYHIS...NPCQNDGQCR → YAILCQEAGA...PFLAGQQLSD 2725-2812: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform 2 (identifier: Q9Y493-3) The sequence of this isoform differs from the canonical sequence as follows: 2597-2689: HGVSSRYHIS...SSRILLCEPF → YAILCQEAGA...ASTTSWAAAF 2690-2812: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform 4 (identifier: Q9Y493-4) The sequence of this isoform differs from the canonical sequence as follows: 2597-2624: HGVSSRYHISELYDTLPSILCQPGRPRG → YAILCQEAGAALAGWRDRTLCAGQQLSD 2625-2812: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform 5 (identifier: Q9Y493-5) The sequence of this isoform differs from the canonical sequence as follows: 2597-2601: HGVSS → WAAAF 2602-2812: Missing. | ||||||
| Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. | ||||||
| Isoform 6 (identifier: Q9Y493-6) The sequence of this isoform differs from the canonical sequence as follows: 2597-2617: HGVSSRYHISELYDTLPSILC → YAILCQEAGAALAGWRDRTLC 2618-2708: Missing. | ||||||
| Isoform 7 (identifier: Q9Y493-7) The sequence of this isoform differs from the canonical sequence as follows: 2597-2636: HGVSSRYHIS...GPLRGRLRQH → YAILCQEAGA...EGPCVEGCAD 2663-2666: LGSS → VRAGSRRPWGAEAPRRARPGMELERLLLALPFLAGQQ |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 17 | 17 | Potential | ||||||||
| Chain | 18 – 2812 | 2795 | Zonadhesin | PRO_0000007783 | |||||||
Regions | |||||||||||
| Topological domain | 18 – 2757 | 2740 | Extracellular Potential | ||||||||
| Transmembrane | 2758 – 2778 | 21 | Potential | ||||||||
| Topological domain | 2779 – 2812 | 34 | Cytoplasmic Potential | ||||||||
| Domain | 39 – 204 | 166 | MAM 1 | ||||||||
| Domain | 209 – 368 | 160 | MAM 2 | ||||||||
| Domain | 371 – 536 | 166 | MAM 3 | ||||||||
| Domain | 1044 – 1093 | 50 | TIL 1 | ||||||||
| Domain | 1103 – 1148 | 46 | VWFC 1 | ||||||||
| Domain | 1155 – 1371 | 217 | VWFD 1 | ||||||||
| Domain | 1426 – 1479 | 54 | TIL 2 | ||||||||
| Domain | 1480 – 1535 | 56 | VWFC 2 | ||||||||
| Domain | 1541 – 1758 | 218 | VWFD 2 | ||||||||
| Domain | 1812 – 1867 | 56 | TIL 3 | ||||||||
| Domain | 1868 – 1924 | 57 | VWFC 3 | ||||||||
| Domain | 1930 – 2144 | 215 | VWFD 3 | ||||||||
| Domain | 2211 – 2267 | 57 | TIL 4 | ||||||||
| Domain | 2268 – 2329 | 62 | VWFC 4 | ||||||||
| Domain | 2330 – 2537 | 208 | VWFD 4 | ||||||||
| Domain | 2652 – 2797 | 146 | VWFC 5 | ||||||||
| Domain | 2708 – 2744 | 37 | EGF-like | ||||||||
| Region | 573 – 1041 | 469 | 66 X heptapeptide repeats (approximate) (mucin-like domain) | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 333 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 493 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1112 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1188 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1685 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1804 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1900 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1946 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2203 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2542 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2701 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 2712 ↔ 2723 | By similarity | |||||||||
| Disulfide bond | 2717 ↔ 2732 | By similarity | |||||||||
| Disulfide bond | 2734 ↔ 2743 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 2597 – 2724 | 128 | HGVSS…DGQCR → YAILCQEAGAALAGWRDRTL CAMECPAGTIYQSCMTPCPA SCANLADPGDCEGPCVEGCA SIPGYAYSGTQSLPWLTVAA PAMASTTRSELAAGGPGEQR RQGEPDQGWNWNVSSWPFPF LAGQQLSD in isoform 1. | VSP_001430 | |||||||
| Alternative sequence | 2597 – 2689 | 93 | HGVSS…LCEPF → YAILCQEAGAALAGWRDRTL CAMECPAGTIYQSCMTPCPA SCANLADPGDCEGPCVEGCA SIPGYAYSGTQSLPWLTVAA PAMASTTSWAAAF in isoform 2. | VSP_001428 | |||||||
| Alternative sequence | 2597 – 2636 | 40 | HGVSS…RLRQH → YAILCQEAGAALAGWRDRTL CAMECPAGTIYQSCMTPCPA SCANLADPGDCEGPCVEGCA D in isoform 7. | VSP_001426 | |||||||
| Alternative sequence | 2597 – 2624 | 28 | HGVSS…GRPRG → YAILCQEAGAALAGWRDRTL CAGQQLSD in isoform 4. | VSP_001424 | |||||||
| Alternative sequence | 2597 – 2617 | 21 | HGVSS…PSILC → YAILCQEAGAALAGWRDRTL C in isoform 6. | VSP_001422 | |||||||
| Alternative sequence | 2597 – 2601 | 5 | HGVSS → WAAAF in isoform 5. | VSP_001420 | |||||||
| Alternative sequence | 2602 – 2812 | 211 | Missing in isoform 5. | VSP_001421 | |||||||
| Alternative sequence | 2618 – 2708 | 91 | Missing in isoform 6. | VSP_001423 | |||||||
| Alternative sequence | 2625 – 2812 | 188 | Missing in isoform 4. | VSP_001425 | |||||||
| Alternative sequence | 2663 – 2666 | 4 | LGSS → VRAGSRRPWGAEAPRRARPG MELERLLLALPFLAGQQ in isoform 7. | VSP_001427 | |||||||
| Alternative sequence | 2690 – 2812 | 123 | Missing in isoform 2. | VSP_001429 | |||||||
| Alternative sequence | 2725 – 2812 | 88 | Missing in isoform 1. | VSP_001431 | |||||||
| Natural variant | 113 | 1 | G → A: dbSNP rs34828430. | VAR_061162 | |||||||
| Natural variant | 412 | 1 | G → S: dbSNP rs17162408. | VAR_055785 | |||||||
| Natural variant | 690 | 1 | S → T: dbSNP rs13241461. | VAR_055786 | |||||||
| Natural variant | 1012 | 1 | L → R: dbSNP rs6942733. | VAR_055787 | |||||||
| Natural variant | 1096 | 1 | F → C: dbSNP rs221823. | VAR_055788 | |||||||
| Natural variant | 1375 | 1 | A → T: dbSNP rs2293767. | VAR_055789 | |||||||
| Natural variant | 1674 | 1 | G → C: dbSNP rs10953303. | VAR_055790 | |||||||
| Natural variant | 1698 | 1 | L → P: dbSNP rs10247980. | VAR_055791 | |||||||
| Natural variant | 1742 | 1 | C → R: dbSNP rs17147735. | VAR_055792 | |||||||
| Natural variant | 1878 | 1 | P → S: dbSNP rs314298. | VAR_055793 | |||||||
| Natural variant | 1903 | 1 | C → Y: dbSNP rs12673041. | VAR_055794 | |||||||
| Natural variant | 1995 | 1 | I → M: dbSNP rs541275. | VAR_059278 | |||||||
| Natural variant | 2073 | 1 | N → S: dbSNP rs314300. | VAR_059279 | |||||||
| Natural variant | 2334 | 1 | Y → S: dbSNP rs60783739. | VAR_061163 | |||||||
| Natural variant | 2349 | 1 | L → F: dbSNP rs59541653. | VAR_061164 | |||||||
| Natural variant | 2527 | 1 | T → M: dbSNP rs3847059. | VAR_059280 | |||||||
| Natural variant | 2643 | 1 | W → R: dbSNP rs314339. | VAR_059281 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 430 | 1 | H → Q in AAK01431. Ref.1 | ||||||||
| Sequence conflict | 430 | 1 | H → Q in AAK01432. Ref.1 | ||||||||
| Sequence conflict | 430 | 1 | H → Q in AAK01433. Ref.1 | ||||||||
| Sequence conflict | 430 | 1 | H → Q in AAK01434. Ref.1 | ||||||||
| Sequence conflict | 430 | 1 | H → Q in AAK01435. Ref.1 | ||||||||
| Sequence conflict | 1922 | 1 | H → R in AAK01431. Ref.1 | ||||||||
| Sequence conflict | 1922 | 1 | H → R in AAK01432. Ref.1 | ||||||||
| Sequence conflict | 1922 | 1 | H → R in AAK01433. Ref.1 | ||||||||
| Sequence conflict | 1922 | 1 | H → R in AAK01434. Ref.1 | ||||||||
| Sequence conflict | 1922 | 1 | H → R in AAK01435. Ref.1 | ||||||||
| Sequence conflict | 1969 | 1 | L → F in AAK01431. Ref.1 | ||||||||
| Sequence conflict | 1969 | 1 | L → F in AAK01432. Ref.1 | ||||||||
| Sequence conflict | 1969 | 1 | L → F in AAK01433. Ref.1 | ||||||||
| Sequence conflict | 1969 | 1 | L → F in AAK01434. Ref.1 | ||||||||
| Sequence conflict | 1969 | 1 | L → F in AAK01435. Ref.1 | ||||||||
| Sequence conflict | 2035 | 1 | T → S in AAK01431. Ref.1 | ||||||||
| Sequence conflict | 2035 | 1 | T → S in AAK01432. Ref.1 | ||||||||
| Sequence conflict | 2035 | 1 | T → S in AAK01433. Ref.1 | ||||||||
| Sequence conflict | 2035 | 1 | T → S in AAK01434. Ref.1 | ||||||||
| Sequence conflict | 2035 | 1 | T → S in AAK01435. Ref.1 | ||||||||
| Sequence conflict | 2111 | 1 | P → L in AAK01431. Ref.1 | ||||||||
| Sequence conflict | 2111 | 1 | P → L in AAK01432. Ref.1 | ||||||||
| Sequence conflict | 2111 | 1 | P → L in AAK01433. Ref.1 | ||||||||
| Sequence conflict | 2111 | 1 | P → L in AAK01434. Ref.1 | ||||||||
| Sequence conflict | 2111 | 1 | P → L in AAK01435. Ref.1 | ||||||||
| Sequence conflict | 2430 | 1 | R → W in AAK01431. Ref.1 | ||||||||
| Sequence conflict | 2430 | 1 | R → W in AAK01432. Ref.1 | ||||||||
| Sequence conflict | 2430 | 1 | R → W in AAK01433. Ref.1 | ||||||||
| Sequence conflict | 2430 | 1 | R → W in AAK01434. Ref.1 | ||||||||
| Sequence conflict | 2430 | 1 | R → W in AAK01435. Ref.1 | ||||||||
| Sequence conflict | 2761 | 1 | G → A in AAK01433. Ref.1 | ||||||||
Sequences
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References
| [1] | "Multiple intra-species variants of human zonadhesin." Cheung T.L., Wassler M.J., Cornwall G.A., Hardy D.M. Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE (ISOFORMS 1; 2; 3; 4; 5 AND 6). Tissue: Testis. |
| [2] | "Molecular population genetics of the gene encoding the human fertilization protein zonadhesin reveals rapid adaptive evolution." Gasper J., Swanson W.J. Am. J. Hum. Genet. 79:820-830(2006) [PubMed: 17033959] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [3] | "Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes." Gloeckner G., Scherer S., Schattevoy R., Boright A.P., Weber J., Tsui L.-C., Rosenthal A. Genome Res. 8:1060-1073(1998) [PubMed: 9799793] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [4] | "Comparative analysis of the gene-dense ACHE/TFR2 region on human chromosome 7q22 with the orthologous region on mouse chromosome 5." Wilson M.D., Riemer C., Martindale D.W., Schnupf P., Boright A.P., Cheung T.L., Hardy D.M., Schwartz S., Scherer S.W., Tsui L.-C., Miller W., Koop B.F. Nucleic Acids Res. 29:1352-1365(2001) [PubMed: 11239002] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1810-2812 (ISOFORM 1). |
| [5] | "Chromosome localization of the mouse zonadhesin gene and the human zonadhesin gene (ZAN)." Gao Z., Harumi T., Garbers D.L. Genomics 41:119-122(1997) [PubMed: 9126492] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2375-2683 (ISOFORM 7). Tissue: Testis. |
| [6] | "An unappreciated role for RNA surveillance." Hillman R.T., Green R.E., Brenner S.E. Genome Biol. 5:R8.1-R8.16(2004) [PubMed: 14759258] [Abstract] Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S). |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF332975 mRNA. Translation: AAK01431.1. AF332976 mRNA. Translation: AAK01432.1. AF332977 mRNA. Translation: AAK01433.1. AF332978 mRNA. Translation: AAK01434.1. AF332979 mRNA. Translation: AAK01435.1. AF332980 mRNA. Translation: AAK01436.1. EF025894 Genomic DNA. Translation: ABJ98522.1. AY046055 Genomic DNA. Translation: AAL04410.1. AY046055 Genomic DNA. Translation: AAL04411.1. AY046055 Genomic DNA. Translation: AAL04412.1. AY046055 Genomic DNA. Translation: AAL04413.1. AY046055 Genomic DNA. Translation: AAL04414.1. AY046055 Genomic DNA. Translation: AAL04415.1. AF053356 Genomic DNA. Translation: AAC78790.1. Sequence problems. AF312032 Genomic DNA. Translation: AAK21011.1. U83191 mRNA. Translation: AAC51208.1. |
| IPI | IPI00000454. IPI00220092. IPI00220093. IPI00220094. IPI00220095. IPI00220096. IPI00220097. |
| RefSeq | NP_003377.1. NP_775082.1. |
| UniGene | Hs.307004 |
3D structure databases | |
| SMR | Q9Y493. Positions 38-204, 1424-1479, 2209-2270. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q9Y493. |
PTM databases | |
| PhosphoSite | Q9Y493. |
Proteomic databases | |
| PRIDE | Q9Y493. |
Genome annotation databases | |
| GeneID | 7455. |
| KEGG | hsa:7455. |
Organism-specific databases | |
| CTD | 7455. |
| GeneCards | GC07P100169. |
| HGNC | HGNC:12857. ZAN. |
| MIM | 602372. gene. |
| PharmGKB | PA37446. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG08064. |
| HOVERGEN | HBG000375. |
| InParanoid | Q9Y493. |
Gene expression databases | |
| ArrayExpress | Q9Y493. |
| Bgee | Q9Y493. |
| Genevestigator | Q9Y493. |
| GermOnline | ENSG00000146839. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR014853. Conserved-cysteine-rich_domain. IPR006210. EGF-like. IPR013032. EGF-like_reg_CS. IPR000742. EGF_3. IPR000998. MAM. IPR002919. Prot_Inh_CR_TIL. IPR018453. Prot_Inh_CR_TIL_sg. IPR001846. von_Willebrand_fac_D. IPR001007. VWF_C. [Graphical view] |
| Pfam | PF08742. C8. 4 hits. PF00629. MAM. 3 hits. PF01826. TIL. 4 hits. PF00094. VWD. 4 hits. [Graphical view] |
| SMART | SM00832. C8. 4 hits. SM00181. EGF. 1 hit. SM00137. MAM. 3 hits. SM00214. VWC. 2 hits. SM00216. VWD. 4 hits. [Graphical view] |
| SUPFAM | SSF57567. Cysrich_TIL. 4 hits. |
| PROSITE | PS00022. EGF_1. 1 hit. PS01186. EGF_2. 4 hits. PS50026. EGF_3. 1 hit. PS00740. MAM_1. 1 hit. PS50060. MAM_2. 3 hits. PS01208. VWFC_1. False negative. PS50184. VWFC_2. False negative. PS51233. VWFD. 4 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 29192. |
| SOURCE | Search... |
Entry information
| Entry name | ZAN_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y493 Secondary accession number(s): A0FKC8 Q9BZ88 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 7 Human chromosome 7: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


