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Q9Y493

- ZAN_HUMAN

UniProt

Q9Y493 - ZAN_HUMAN

Protein

Zonadhesin

Gene

ZAN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 4 (08 Mar 2011)
      Previous versions | rss
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    Functioni

    Binds in a species-specific manner to the zona pellucida of the egg. May be involved in gamete recognition and/or signaling.

    GO - Biological processi

    1. binding of sperm to zona pellucida Source: UniProtKB
    2. single organismal cell-cell adhesion Source: UniProtKB

    Keywords - Biological processi

    Cell adhesion

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Zonadhesin
    Gene namesi
    Name:ZAN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:12857. ZAN.

    Subcellular locationi

    Cell membrane; Single-pass type I membrane protein
    Note: Exclusively on the apical region of the sperm head.By similarity

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. plasma membrane Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA37446.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 1717Sequence AnalysisAdd
    BLAST
    Chaini18 – 28122795ZonadhesinPRO_0000007783Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi333 – 3331N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi493 – 4931N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1112 – 11121N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1188 – 11881N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1685 – 16851N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1804 – 18041N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1900 – 19001N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1946 – 19461N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2203 – 22031N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2542 – 25421N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi2701 – 27011N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi2712 ↔ 2723By similarity
    Disulfide bondi2717 ↔ 2732By similarity
    Disulfide bondi2734 ↔ 2743By similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PRIDEiQ9Y493.

    PTM databases

    PhosphoSiteiQ9Y493.

    Expressioni

    Tissue specificityi

    In testis, primarily in haploid spermatids.

    Gene expression databases

    ArrayExpressiQ9Y493.
    BgeeiQ9Y493.
    GenevestigatoriQ9Y493.

    Interactioni

    Subunit structurei

    Probably forms covalent oligomers.

    Protein-protein interaction databases

    MINTiMINT-4658080.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9Y493.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini18 – 27572740ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini2779 – 281234CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei2758 – 277821HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini39 – 204166MAM 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini209 – 368160MAM 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini371 – 536166MAM 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini1044 – 109350TIL 1Add
    BLAST
    Domaini1103 – 114846VWFC 1Add
    BLAST
    Domaini1155 – 1371217VWFD 1PROSITE-ProRule annotationAdd
    BLAST
    Domaini1426 – 147954TIL 2Add
    BLAST
    Domaini1480 – 153556VWFC 2Add
    BLAST
    Domaini1541 – 1758218VWFD 2PROSITE-ProRule annotationAdd
    BLAST
    Domaini1812 – 186756TIL 3Add
    BLAST
    Domaini1868 – 192457VWFC 3Add
    BLAST
    Domaini1930 – 2144215VWFD 3PROSITE-ProRule annotationAdd
    BLAST
    Domaini2211 – 226757TIL 4Add
    BLAST
    Domaini2268 – 232962VWFC 4Add
    BLAST
    Domaini2330 – 2537208VWFD 4PROSITE-ProRule annotationAdd
    BLAST
    Domaini2652 – 2797146VWFC 5Add
    BLAST
    Domaini2708 – 274437EGF-likePROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni573 – 104146966 X heptapeptide repeats (approximate) (mucin-like domain)Add
    BLAST

    Domaini

    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 similaritiesi

    Contains 1 EGF-like domain.PROSITE-ProRule annotation
    Contains 3 MAM domains.PROSITE-ProRule annotation
    Contains 5 VWFC domains.Curated
    Contains 4 VWFD domains.PROSITE-ProRule annotation

    Keywords - Domaini

    EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    HOVERGENiHBG000375.
    InParanoidiQ9Y493.
    PhylomeDBiQ9Y493.

    Family and domain databases

    InterProiIPR008985. ConA-like_lec_gl_sf.
    IPR000742. EG-like_dom.
    IPR013032. EGF-like_CS.
    IPR000998. MAM_dom.
    IPR002919. TIL_dom.
    IPR025615. TILa_dom.
    IPR014853. Unchr_dom_Cys-rich.
    IPR001007. VWF_C.
    IPR001846. VWF_type-D.
    [Graphical view]
    PfamiPF08742. C8. 4 hits.
    PF00008. EGF. 1 hit.
    PF00629. MAM. 3 hits.
    PF01826. TIL. 4 hits.
    PF12714. TILa. 5 hits.
    PF00094. VWD. 4 hits.
    [Graphical view]
    SMARTiSM00832. C8. 4 hits.
    SM00181. EGF. 1 hit.
    SM00137. MAM. 3 hits.
    SM00214. VWC. 3 hits.
    SM00216. VWD. 4 hits.
    [Graphical view]
    SUPFAMiSSF49899. SSF49899. 3 hits.
    SSF57567. SSF57567. 4 hits.
    PROSITEiPS00022. EGF_1. 1 hit.
    PS01186. EGF_2. 4 hits.
    PS50026. EGF_3. 1 hit.
    PS00740. MAM_1. 1 hit.
    PS50060. MAM_2. 3 hits.
    PS51233. VWFD. 4 hits.
    [Graphical view]

    Sequences (7)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 7 isoformsi produced by alternative splicing. Align

    Isoform 3 (identifier: Q9Y493-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MVPPVWTLLL LVGAALFRKE KPPDQKLVVR SSRDNYVLTQ CDFEDDAKPL     50
    CDWSQVSADD EDWVRASGPS PTGSTGAPGG YPNGEGSYLH MESNSFHRGG 100
    VARLLSPDLW EQGPLCVHFA HHMFGLSWGA QLRLLLLSGE EGRRPDVLWK 150
    HWNTQRPSWM LTTVTVPAGF TLPTRLMFEG TRGSTAYLDI ALDALSIRRG 200
    SCNRVCMMQT CSFDIPNDLC DWTWIPTASG AKWTQKKGSS GKPGVGPDGD 250
    FSSPGSGCYM LLDPKNARPG QKAVLLSPVS LSSGCLSFSF HYILRGQSPG 300
    AALHIYASVL GSIRKHTLFS GQPGPNWQAV SVNYTAVGRI QFAVVGVFGK 350
    TPEPAVAVDA TSIAPCGEGF PQCDFEDNAH PFCDWVQTSG DGGHWALGHK 400
    NGPVHGMGPA GGFPNAGGHY IYLEADEFSQ AGQSVRLVSR PFCAPGDICV 450
    EFAYHMYGLG EGTMLELLLG SPAGSPPIPL WKRVGSQRPY WQNTSVTVPS 500
    GHQQPMQLIF KGIQGSNTAS VVAMGFILIN PGTCPVKVLP ELPPVSPVSS 550
    TGPSETTGLT ENPTISTKKP TVSIEKPSVT TEKPTVPKEK PTIPTEKPTI 600
    STEKPTIPSE KPNMPSEKPT IPSEKPTILT EKPTIPSEKP TIPSEKPTIS 650
    TEKPTVPTEE PTTPTEETTT SMEEPVIPTE KPSIPTEKPS IPTEKPTISM 700
    EETIISTEKP TISPEKPTIP TEKPTIPTEK STISPEKPTT PTEKPTIPTE 750
    KPTISPEKPT TPTEKPTISP EKLTIPTEKP TIPTEKPTIP TEKPTISTEE 800
    PTTPTEETTI STEKPSIPME KPTLPTEETT TSVEETTIST EKLTIPMEKP 850
    TISTEKPTIP TEKPTISPEK LTIPTEKLTI PTEKPTIPIE ETTISTEKLT 900
    IPTEKPTISP EKPTISTEKP TIPTEKPTIP TEETTISTEK LTIPTEKPTI 950
    SPEKLTIPTE KPTISTEKPT IPTEKLTIPT EKPTIPTEKP TIPTEKLTAL 1000
    RPPHPSPTAT GLAALVMSPH APSTPMTSVI LGTTTTSRSS TERCPPNARY 1050
    ESCACPASCK SPRPSCGPLC REGCVCNPGF LFSDNHCIQA SSCNCFYNND 1100
    YYEPGAEWFS PNCTEHCRCW PGSRVECQIS QCGTHTVCQL KNGQYGCHPY 1150
    AGTATCLVYG DPHYVTFDGR HFGFMGKCTY ILAQPCGNST DPFFRVTAKN 1200
    EEQGQEGVSC LSKVYVTLPE STVTLLKGRR TLVGGQQVTL PAIPSKGVFL 1250
    GASGRFVELQ TEFGLRVRWD GDQQLYVTVS STYSGKLCGL CGNYDGNSDN 1300
    DHLKLDGSPA GDKEELGNSW QTDQDEDQEC QKYQVVNSPS CDSSLQSSMS 1350
    GPGFCGRLVD THGPFETCLL HVKAASFFDS CMLDMCGFQG LQHLLCTHMS 1400
    TMTTTCQDAG HAVKPWREPH FCPMACPPNS KYSLCAKPCP DTCHSGFSGM 1450
    FCSDRCVEAC ECNPGFVLSG LECIPRSQCG CLHPAGSYFK VGERWYKPGC 1500
    KELCVCESNN RIRCQPWRCR AQEFCGQQDG IYGCHAQGAA TCTASGDPHY 1550
    LTFDGALHHF MGTCTYVLTR PCWSRSQDSY FVVSATNENR GGILEVSYIK 1600
    AVHVTVFDLS ISLLRGCKVM LNGHRVALPV WLAQGRVTIR LSSNLVLLYT 1650
    NFGLQVRYDG SHLVEVTVPS SYGGQLCGLC GNYNNNSLDD NLRPDRKLAG 1700
    DSMQLGAAWK LPESSEPGCF LVGGKPSSCQ ENSMADAWNK NCAILINPQG 1750
    PFSQCHQVVP PQSSFASCVH GQCGTKGDTT ALCRSLQAYA SLCAQAGQAP 1800
    AWRNRTFCPM RCPPGSSYSP CSSPCPDTCS SINNPRDCPK ALPCAESCEC 1850
    QKGHILSGTS CVPLGQCGCT DPAGSYHPVG ERWYTENTCT RLCTCSVHNN 1900
    ITCFQSTCKP NQICWALDGL LRCRASGVGV CQLPGESHYV SFDGSNHSIP 1950
    DACTLVLVKV CHPAMALPFF KISAKHEKEE GGTEAFRLHE VYIDIYDAQV 2000
    TLQKGHRVLI NSKQVTLPAI SQIPGVSVKS SSIYSIVNIK IGVQVKFDGN 2050
    HLLEIEIPTT YYGKVCGMCG NFNDEEEDEL MMPSDEVANS DSEFVNSWKD 2100
    KDIDPSCQSL LVDEQQIPAE QQENPSGNCR AADLRRAREK CEAALRAPVW 2150
    AQCASRIDLT PFLVDCANTL CEFGGLYQAL CQALQAFGAT CQSQGLKPPL 2200
    WRNSSFCPLE CPAYSSYTNC LPSCSPSCWD LDGRCEGAKV PSACAEGCIC 2250
    QPGYVLSEDK CVPRSQCGCK DAHGGSIPLG KSWVSSGCTE KCVCTGGAIQ 2300
    CGDFRCPSGS HCQLTSDNSN SNCVSDKSEQ CSVYGDPRYL TFDGFSYRLQ 2350
    GRMTYVLIKT VDVLPEGVEP LLVEGRNKMD PPRSSIFLQE VITTVYGYKV 2400
    QLQAGLELVV NNQKMAVPYR PNEHLRVTLW GQRLYLVTDF ELVVSFGGRK 2450
    NAVISLPSMY EGLVSGLCGN YDKNRKNDMM LPSGALTQNL NTFGNSWEVK 2500
    TEDALLRFPR AIPAEEEGQG AELGLRTGLQ VSECSPEQLA SNSTQACRVL 2550
    ADPQGPFAAC HQTVAPEPFQ EHCVLDLCSA QDPREQEELR CQVLSGHGVS 2600
    SRYHISELYD TLPSILCQPG RPRGLRGPLR GRLRQHPRLC LQWHPEPPLA 2650
    DCGCTSNGIY YQLGSSFLTE DCSQRCTCAS SRILLCEPFS CRAGEVCTLG 2700
    NHTQGCFPES PCLQNPCQND GQCREQGATF TCECEVGYGG GLCMEPRDAP 2750
    PPRKPASNLV AVLLGLLVPV VVVLLAVTRE CIYRTRRKRE KTQEGDRLAR 2800
    LVDTDTVLDC AC 2812
    Length:2,812
    Mass (Da):305,663
    Last modified:March 8, 2011 - v4
    Checksum:i912FBE459AFC3302
    GO
    Isoform 1 (identifier: Q9Y493-2) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:2,724
    Mass (Da):295,261
    Checksum:i74016809A5DF2331
    GO
    Isoform 2 (identifier: Q9Y493-3) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:2,689
    Mass (Da):291,356
    Checksum:i7E12C3343BFD408C
    GO
    Isoform 4 (identifier: Q9Y493-4) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:2,624
    Mass (Da):284,848
    Checksum:i1ABB2256CC5A2BA3
    GO
    Isoform 5 (identifier: Q9Y493-5) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:2,601
    Mass (Da):282,431
    Checksum:i6B97B524C67AABF4
    GO
    Isoform 6 (identifier: Q9Y493-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2597-2617: HGVSSRYHISELYDTLPSILC → YAILCQEAGAALAGWRDRTLC
         2618-2708: Missing.

    Show »
    Length:2,721
    Mass (Da):295,509
    Checksum:i142E9CBF3D404EC3
    GO
    Isoform 7 (identifier: Q9Y493-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         2597-2636: HGVSSRYHIS...GPLRGRLRQH → YAILCQEAGA...EGPCVEGCAD
         2663-2666: LGSS → VRAGSRRPWGAEAPRRARPGMELERLLLALPFLAGQQ

    Show »
    Length:2,866
    Mass (Da):311,094
    Checksum:iC31893BFC621EF6C
    GO

    Sequence cautioni

    The sequence AAC78790.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence EAW76487.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence EAW76488.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence EAW76489.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence EAW76490.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence EAW76491.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence EAW76492.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1922 – 19221R → H in AAL04410. (PubMed:17033959)Curated
    Sequence conflicti1922 – 19221R → H in AAL04411. (PubMed:17033959)Curated
    Sequence conflicti1922 – 19221R → H in AAL04412. (PubMed:17033959)Curated
    Sequence conflicti1922 – 19221R → H in AAL04413. (PubMed:17033959)Curated
    Sequence conflicti1922 – 19221R → H in AAL04414. (PubMed:17033959)Curated
    Sequence conflicti1922 – 19221R → H in AAL04415. (PubMed:17033959)Curated
    Sequence conflicti1922 – 19221R → H in ABJ98522. (PubMed:17033959)Curated
    Sequence conflicti1922 – 19221R → H in AAC78790. (PubMed:9799793)Curated
    Sequence conflicti1922 – 19221R → H in AAK21011. (PubMed:11239002)Curated
    Sequence conflicti2430 – 24301W → R in AAL04410. (PubMed:17033959)Curated
    Sequence conflicti2430 – 24301W → R in AAL04411. (PubMed:17033959)Curated
    Sequence conflicti2430 – 24301W → R in AAL04412. (PubMed:17033959)Curated
    Sequence conflicti2430 – 24301W → R in AAL04413. (PubMed:17033959)Curated
    Sequence conflicti2430 – 24301W → R in AAL04414. (PubMed:17033959)Curated
    Sequence conflicti2430 – 24301W → R in AAL04415. (PubMed:17033959)Curated
    Sequence conflicti2430 – 24301W → R in ABJ98522. (PubMed:17033959)Curated
    Sequence conflicti2430 – 24301W → R in AAK21011. (PubMed:11239002)Curated
    Sequence conflicti2430 – 24301W → R in AAC51208. (PubMed:9126492)Curated
    Sequence conflicti2555 – 25551G → A in AAC51208. (PubMed:9126492)Curated
    Sequence conflicti2565 – 25651A → P in AAC51208. (PubMed:9126492)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti16 – 161L → F.
    Corresponds to variant rs12673246 [ dbSNP | Ensembl ].
    VAR_064584
    Natural varianti113 – 1131G → A.
    Corresponds to variant rs34828430 [ dbSNP | Ensembl ].
    VAR_061162
    Natural varianti412 – 4121G → S.
    Corresponds to variant rs17162408 [ dbSNP | Ensembl ].
    VAR_055785
    Natural varianti430 – 4301Q → H.2 Publications
    Corresponds to variant rs221833 [ dbSNP | Ensembl ].
    VAR_064585
    Natural varianti690 – 6901S → T.
    Corresponds to variant rs13241461 [ dbSNP | Ensembl ].
    VAR_055786
    Natural varianti1012 – 10121L → R.
    Corresponds to variant rs6942733 [ dbSNP | Ensembl ].
    VAR_055787
    Natural varianti1096 – 10961F → C.
    Corresponds to variant rs221823 [ dbSNP | Ensembl ].
    VAR_055788
    Natural varianti1375 – 13751A → T.
    Corresponds to variant rs2293767 [ dbSNP | Ensembl ].
    VAR_055789
    Natural varianti1674 – 16741G → C.
    Corresponds to variant rs10953303 [ dbSNP | Ensembl ].
    VAR_055790
    Natural varianti1698 – 16981L → P.
    Corresponds to variant rs10247980 [ dbSNP | Ensembl ].
    VAR_055791
    Natural varianti1742 – 17421C → R.
    Corresponds to variant rs17147735 [ dbSNP | Ensembl ].
    VAR_055792
    Natural varianti1878 – 18781P → S.
    Corresponds to variant rs314298 [ dbSNP | Ensembl ].
    VAR_055793
    Natural varianti1903 – 19031C → Y.
    Corresponds to variant rs12673041 [ dbSNP | Ensembl ].
    VAR_055794
    Natural varianti1922 – 19221R → C.
    Corresponds to variant rs314299 [ dbSNP | Ensembl ].
    VAR_064586
    Natural varianti1969 – 19691F → L.3 Publications
    Corresponds to variant rs542137 [ dbSNP | Ensembl ].
    VAR_064587
    Natural varianti1995 – 19951I → M.1 Publication
    Corresponds to variant rs541275 [ dbSNP | Ensembl ].
    VAR_059278
    Natural varianti2035 – 20351S → T.3 Publications
    Corresponds to variant rs539445 [ dbSNP | Ensembl ].
    VAR_064588
    Natural varianti2073 – 20731N → S.
    Corresponds to variant rs314300 [ dbSNP | Ensembl ].
    VAR_059279
    Natural varianti2111 – 21111L → P.3 Publications
    Corresponds to variant rs531503 [ dbSNP | Ensembl ].
    VAR_064589
    Natural varianti2334 – 23341Y → S.
    Corresponds to variant rs60783739 [ dbSNP | Ensembl ].
    VAR_061163
    Natural varianti2349 – 23491L → F.
    Corresponds to variant rs59541653 [ dbSNP | Ensembl ].
    VAR_061164
    Natural varianti2527 – 25271T → M.
    Corresponds to variant rs3847059 [ dbSNP | Ensembl ].
    VAR_059280
    Natural varianti2643 – 26431W → R.
    Corresponds to variant rs314339 [ dbSNP | Ensembl ].
    VAR_059281

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei2597 – 2724128HGVSS…DGQCR → YAILCQEAGAALAGWRDRTL CAMECPAGTIYQSCMTPCPA SCANLADPGDCEGPCVEGCA SIPGYAYSGTQSLPWLTVAA PAMASTTRSELAAGGPGEQR RQGEPDQGWNWNVSSWPFPF LAGQQLSD in isoform 1. 1 PublicationVSP_001430Add
    BLAST
    Alternative sequencei2597 – 268993HGVSS…LCEPF → YAILCQEAGAALAGWRDRTL CAMECPAGTIYQSCMTPCPA SCANLADPGDCEGPCVEGCA SIPGYAYSGTQSLPWLTVAA PAMASTTSWAAAF in isoform 2. 1 PublicationVSP_001428Add
    BLAST
    Alternative sequencei2597 – 263640HGVSS…RLRQH → YAILCQEAGAALAGWRDRTL CAMECPAGTIYQSCMTPCPA SCANLADPGDCEGPCVEGCA D in isoform 7. 1 PublicationVSP_001426Add
    BLAST
    Alternative sequencei2597 – 262428HGVSS…GRPRG → YAILCQEAGAALAGWRDRTL CAGQQLSD in isoform 4. 1 PublicationVSP_001424Add
    BLAST
    Alternative sequencei2597 – 261721HGVSS…PSILC → YAILCQEAGAALAGWRDRTL C in isoform 6. 1 PublicationVSP_001422Add
    BLAST
    Alternative sequencei2597 – 26015HGVSS → WAAAF in isoform 5. 1 PublicationVSP_001420
    Alternative sequencei2602 – 2812211Missing in isoform 5. 1 PublicationVSP_001421Add
    BLAST
    Alternative sequencei2618 – 270891Missing in isoform 6. 1 PublicationVSP_001423Add
    BLAST
    Alternative sequencei2625 – 2812188Missing in isoform 4. 1 PublicationVSP_001425Add
    BLAST
    Alternative sequencei2663 – 26664LGSS → VRAGSRRPWGAEAPRRARPG MELERLLLALPFLAGQQ in isoform 7. 1 PublicationVSP_001427
    Alternative sequencei2690 – 2812123Missing in isoform 2. 1 PublicationVSP_001429Add
    BLAST
    Alternative sequencei2725 – 281288Missing in isoform 1. 1 PublicationVSP_001431Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    AC009488 Genomic DNA. No translation available.
    AC011895 Genomic DNA. No translation available.
    CH471091 Genomic DNA. Translation: EAW76487.1. Sequence problems.
    CH471091 Genomic DNA. Translation: EAW76488.1. Sequence problems.
    CH471091 Genomic DNA. Translation: EAW76489.1. Sequence problems.
    CH471091 Genomic DNA. Translation: EAW76490.1. Sequence problems.
    CH471091 Genomic DNA. Translation: EAW76491.1. Sequence problems.
    CH471091 Genomic DNA. Translation: EAW76492.1. Sequence problems.
    AF053356 Genomic DNA. Translation: AAC78790.1. Sequence problems.
    AF312032 Genomic DNA. Translation: AAK21011.1.
    U83191 mRNA. Translation: AAC51208.1.
    RefSeqiNP_003377.2. NM_003386.2.
    NP_775082.2. NM_173059.2.
    UniGeneiHs.307004.

    Genome annotation databases

    EnsembliENST00000348028; ENSP00000423579; ENSG00000146839.
    ENST00000349350; ENSP00000422387; ENSG00000146839.
    ENST00000421100; ENSP00000425454; ENSG00000146839.
    ENST00000427578; ENSP00000425200; ENSG00000146839.
    ENST00000443370; ENSP00000421245; ENSG00000146839.
    ENST00000449052; ENSP00000422208; ENSG00000146839.
    GeneIDi7455.
    KEGGihsa:7455.
    UCSCiuc003uwj.3. human. [Q9Y493-1]
    uc003uwk.3. human. [Q9Y493-6]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    AC009488 Genomic DNA. No translation available.
    AC011895 Genomic DNA. No translation available.
    CH471091 Genomic DNA. Translation: EAW76487.1 . Sequence problems.
    CH471091 Genomic DNA. Translation: EAW76488.1 . Sequence problems.
    CH471091 Genomic DNA. Translation: EAW76489.1 . Sequence problems.
    CH471091 Genomic DNA. Translation: EAW76490.1 . Sequence problems.
    CH471091 Genomic DNA. Translation: EAW76491.1 . Sequence problems.
    CH471091 Genomic DNA. Translation: EAW76492.1 . Sequence problems.
    AF053356 Genomic DNA. Translation: AAC78790.1 . Sequence problems.
    AF312032 Genomic DNA. Translation: AAK21011.1 .
    U83191 mRNA. Translation: AAC51208.1 .
    RefSeqi NP_003377.2. NM_003386.2.
    NP_775082.2. NM_173059.2.
    UniGenei Hs.307004.

    3D structure databases

    ProteinModelPortali Q9Y493.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    MINTi MINT-4658080.

    PTM databases

    PhosphoSitei Q9Y493.

    Proteomic databases

    PRIDEi Q9Y493.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000348028 ; ENSP00000423579 ; ENSG00000146839 .
    ENST00000349350 ; ENSP00000422387 ; ENSG00000146839 .
    ENST00000421100 ; ENSP00000425454 ; ENSG00000146839 .
    ENST00000427578 ; ENSP00000425200 ; ENSG00000146839 .
    ENST00000443370 ; ENSP00000421245 ; ENSG00000146839 .
    ENST00000449052 ; ENSP00000422208 ; ENSG00000146839 .
    GeneIDi 7455.
    KEGGi hsa:7455.
    UCSCi uc003uwj.3. human. [Q9Y493-1 ]
    uc003uwk.3. human. [Q9Y493-6 ]

    Organism-specific databases

    GeneCardsi GC07P100333.
    HGNCi HGNC:12857. ZAN.
    MIMi 602372. gene.
    neXtProti NX_Q9Y493.
    PharmGKBi PA37446.
    GenAtlasi Search...

    Phylogenomic databases

    HOVERGENi HBG000375.
    InParanoidi Q9Y493.
    PhylomeDBi Q9Y493.

    Miscellaneous databases

    GenomeRNAii 7455.
    NextBioi 29192.
    PROi Q9Y493.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9Y493.
    Bgeei Q9Y493.
    Genevestigatori Q9Y493.

    Family and domain databases

    InterProi IPR008985. ConA-like_lec_gl_sf.
    IPR000742. EG-like_dom.
    IPR013032. EGF-like_CS.
    IPR000998. MAM_dom.
    IPR002919. TIL_dom.
    IPR025615. TILa_dom.
    IPR014853. Unchr_dom_Cys-rich.
    IPR001007. VWF_C.
    IPR001846. VWF_type-D.
    [Graphical view ]
    Pfami PF08742. C8. 4 hits.
    PF00008. EGF. 1 hit.
    PF00629. MAM. 3 hits.
    PF01826. TIL. 4 hits.
    PF12714. TILa. 5 hits.
    PF00094. VWD. 4 hits.
    [Graphical view ]
    SMARTi SM00832. C8. 4 hits.
    SM00181. EGF. 1 hit.
    SM00137. MAM. 3 hits.
    SM00214. VWC. 3 hits.
    SM00216. VWD. 4 hits.
    [Graphical view ]
    SUPFAMi SSF49899. SSF49899. 3 hits.
    SSF57567. SSF57567. 4 hits.
    PROSITEi 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.
    PS51233. VWFD. 4 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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 [MRNA] (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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS HIS-430; LEU-1969; THR-2035 AND PRO-2111.
    3. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] [Europe PMC] [Abstract]
      Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS HIS-430; LEU-1969; MET-1995; THR-2035 AND PRO-2111.
    6. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1810-2812 (ISOFORM 1), VARIANTS LEU-1969; THR-2035 AND PRO-2111.
    7. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2375-2683 (ISOFORM 7).
      Tissue: Testis.
    8. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).

    Entry informationi

    Entry nameiZAN_HUMAN
    AccessioniPrimary (citable) accession number: Q9Y493
    Secondary accession number(s): A0FKC8
    , D6W5W4, O00218, Q96L85, Q96L86, Q96L87, Q96L88, Q96L89, Q96L90, Q9BXN9, Q9BZ83, Q9BZ84, Q9BZ85, Q9BZ86, Q9BZ87, Q9BZ88
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 27, 2001
    Last sequence update: March 8, 2011
    Last modified: October 1, 2014
    This is version 127 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3