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Q9Y493

- ZAN_HUMAN

UniProt

Q9Y493 - ZAN_HUMAN

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Protein

Zonadhesin

Gene

ZAN

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

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
Complete GO annotation...

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
Complete GO annotation...

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

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

InterProiIPR013320. ConA-like_dom.
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

        10         20         30         40         50
MVPPVWTLLL LVGAALFRKE KPPDQKLVVR SSRDNYVLTQ CDFEDDAKPL
60 70 80 90 100
CDWSQVSADD EDWVRASGPS PTGSTGAPGG YPNGEGSYLH MESNSFHRGG
110 120 130 140 150
VARLLSPDLW EQGPLCVHFA HHMFGLSWGA QLRLLLLSGE EGRRPDVLWK
160 170 180 190 200
HWNTQRPSWM LTTVTVPAGF TLPTRLMFEG TRGSTAYLDI ALDALSIRRG
210 220 230 240 250
SCNRVCMMQT CSFDIPNDLC DWTWIPTASG AKWTQKKGSS GKPGVGPDGD
260 270 280 290 300
FSSPGSGCYM LLDPKNARPG QKAVLLSPVS LSSGCLSFSF HYILRGQSPG
310 320 330 340 350
AALHIYASVL GSIRKHTLFS GQPGPNWQAV SVNYTAVGRI QFAVVGVFGK
360 370 380 390 400
TPEPAVAVDA TSIAPCGEGF PQCDFEDNAH PFCDWVQTSG DGGHWALGHK
410 420 430 440 450
NGPVHGMGPA GGFPNAGGHY IYLEADEFSQ AGQSVRLVSR PFCAPGDICV
460 470 480 490 500
EFAYHMYGLG EGTMLELLLG SPAGSPPIPL WKRVGSQRPY WQNTSVTVPS
510 520 530 540 550
GHQQPMQLIF KGIQGSNTAS VVAMGFILIN PGTCPVKVLP ELPPVSPVSS
560 570 580 590 600
TGPSETTGLT ENPTISTKKP TVSIEKPSVT TEKPTVPKEK PTIPTEKPTI
610 620 630 640 650
STEKPTIPSE KPNMPSEKPT IPSEKPTILT EKPTIPSEKP TIPSEKPTIS
660 670 680 690 700
TEKPTVPTEE PTTPTEETTT SMEEPVIPTE KPSIPTEKPS IPTEKPTISM
710 720 730 740 750
EETIISTEKP TISPEKPTIP TEKPTIPTEK STISPEKPTT PTEKPTIPTE
760 770 780 790 800
KPTISPEKPT TPTEKPTISP EKLTIPTEKP TIPTEKPTIP TEKPTISTEE
810 820 830 840 850
PTTPTEETTI STEKPSIPME KPTLPTEETT TSVEETTIST EKLTIPMEKP
860 870 880 890 900
TISTEKPTIP TEKPTISPEK LTIPTEKLTI PTEKPTIPIE ETTISTEKLT
910 920 930 940 950
IPTEKPTISP EKPTISTEKP TIPTEKPTIP TEETTISTEK LTIPTEKPTI
960 970 980 990 1000
SPEKLTIPTE KPTISTEKPT IPTEKLTIPT EKPTIPTEKP TIPTEKLTAL
1010 1020 1030 1040 1050
RPPHPSPTAT GLAALVMSPH APSTPMTSVI LGTTTTSRSS TERCPPNARY
1060 1070 1080 1090 1100
ESCACPASCK SPRPSCGPLC REGCVCNPGF LFSDNHCIQA SSCNCFYNND
1110 1120 1130 1140 1150
YYEPGAEWFS PNCTEHCRCW PGSRVECQIS QCGTHTVCQL KNGQYGCHPY
1160 1170 1180 1190 1200
AGTATCLVYG DPHYVTFDGR HFGFMGKCTY ILAQPCGNST DPFFRVTAKN
1210 1220 1230 1240 1250
EEQGQEGVSC LSKVYVTLPE STVTLLKGRR TLVGGQQVTL PAIPSKGVFL
1260 1270 1280 1290 1300
GASGRFVELQ TEFGLRVRWD GDQQLYVTVS STYSGKLCGL CGNYDGNSDN
1310 1320 1330 1340 1350
DHLKLDGSPA GDKEELGNSW QTDQDEDQEC QKYQVVNSPS CDSSLQSSMS
1360 1370 1380 1390 1400
GPGFCGRLVD THGPFETCLL HVKAASFFDS CMLDMCGFQG LQHLLCTHMS
1410 1420 1430 1440 1450
TMTTTCQDAG HAVKPWREPH FCPMACPPNS KYSLCAKPCP DTCHSGFSGM
1460 1470 1480 1490 1500
FCSDRCVEAC ECNPGFVLSG LECIPRSQCG CLHPAGSYFK VGERWYKPGC
1510 1520 1530 1540 1550
KELCVCESNN RIRCQPWRCR AQEFCGQQDG IYGCHAQGAA TCTASGDPHY
1560 1570 1580 1590 1600
LTFDGALHHF MGTCTYVLTR PCWSRSQDSY FVVSATNENR GGILEVSYIK
1610 1620 1630 1640 1650
AVHVTVFDLS ISLLRGCKVM LNGHRVALPV WLAQGRVTIR LSSNLVLLYT
1660 1670 1680 1690 1700
NFGLQVRYDG SHLVEVTVPS SYGGQLCGLC GNYNNNSLDD NLRPDRKLAG
1710 1720 1730 1740 1750
DSMQLGAAWK LPESSEPGCF LVGGKPSSCQ ENSMADAWNK NCAILINPQG
1760 1770 1780 1790 1800
PFSQCHQVVP PQSSFASCVH GQCGTKGDTT ALCRSLQAYA SLCAQAGQAP
1810 1820 1830 1840 1850
AWRNRTFCPM RCPPGSSYSP CSSPCPDTCS SINNPRDCPK ALPCAESCEC
1860 1870 1880 1890 1900
QKGHILSGTS CVPLGQCGCT DPAGSYHPVG ERWYTENTCT RLCTCSVHNN
1910 1920 1930 1940 1950
ITCFQSTCKP NQICWALDGL LRCRASGVGV CQLPGESHYV SFDGSNHSIP
1960 1970 1980 1990 2000
DACTLVLVKV CHPAMALPFF KISAKHEKEE GGTEAFRLHE VYIDIYDAQV
2010 2020 2030 2040 2050
TLQKGHRVLI NSKQVTLPAI SQIPGVSVKS SSIYSIVNIK IGVQVKFDGN
2060 2070 2080 2090 2100
HLLEIEIPTT YYGKVCGMCG NFNDEEEDEL MMPSDEVANS DSEFVNSWKD
2110 2120 2130 2140 2150
KDIDPSCQSL LVDEQQIPAE QQENPSGNCR AADLRRAREK CEAALRAPVW
2160 2170 2180 2190 2200
AQCASRIDLT PFLVDCANTL CEFGGLYQAL CQALQAFGAT CQSQGLKPPL
2210 2220 2230 2240 2250
WRNSSFCPLE CPAYSSYTNC LPSCSPSCWD LDGRCEGAKV PSACAEGCIC
2260 2270 2280 2290 2300
QPGYVLSEDK CVPRSQCGCK DAHGGSIPLG KSWVSSGCTE KCVCTGGAIQ
2310 2320 2330 2340 2350
CGDFRCPSGS HCQLTSDNSN SNCVSDKSEQ CSVYGDPRYL TFDGFSYRLQ
2360 2370 2380 2390 2400
GRMTYVLIKT VDVLPEGVEP LLVEGRNKMD PPRSSIFLQE VITTVYGYKV
2410 2420 2430 2440 2450
QLQAGLELVV NNQKMAVPYR PNEHLRVTLW GQRLYLVTDF ELVVSFGGRK
2460 2470 2480 2490 2500
NAVISLPSMY EGLVSGLCGN YDKNRKNDMM LPSGALTQNL NTFGNSWEVK
2510 2520 2530 2540 2550
TEDALLRFPR AIPAEEEGQG AELGLRTGLQ VSECSPEQLA SNSTQACRVL
2560 2570 2580 2590 2600
ADPQGPFAAC HQTVAPEPFQ EHCVLDLCSA QDPREQEELR CQVLSGHGVS
2610 2620 2630 2640 2650
SRYHISELYD TLPSILCQPG RPRGLRGPLR GRLRQHPRLC LQWHPEPPLA
2660 2670 2680 2690 2700
DCGCTSNGIY YQLGSSFLTE DCSQRCTCAS SRILLCEPFS CRAGEVCTLG
2710 2720 2730 2740 2750
NHTQGCFPES PCLQNPCQND GQCREQGATF TCECEVGYGG GLCMEPRDAP
2760 2770 2780 2790 2800
PPRKPASNLV AVLLGLLVPV VVVLLAVTRE CIYRTRRKRE KTQEGDRLAR
2810
LVDTDTVLDC AC
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.
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.
UCSCi uc003uwj.3. human. [Q9Y493-1 ]
uc003uwk.3. human. [Q9Y493-6 ]

Organism-specific databases

CTDi 7455.
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

Bgeei Q9Y493.
Genevestigatori Q9Y493.

Family and domain databases

InterProi IPR013320. ConA-like_dom.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 128 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