SEM5B_HUMAN
ID SEM5B_HUMAN Reviewed; 1151 AA.
AC Q9P283; A8K5U2; B7Z393; F8W9U8; Q6DD89; Q6UY12; Q9NW17;
DT 10-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 04-NOV-2008, sequence version 4.
DT 03-AUG-2022, entry version 174.
DE RecName: Full=Semaphorin-5B;
GN Name=SEMA5B; Synonyms=KIAA1445, SEMAG; ORFNames=UNQ5867/PRO34001;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS THR-220;
RP ASP-840 AND GLY-1028.
RC TISSUE=Brain;
RX PubMed=10819331; DOI=10.1093/dnares/7.2.143;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:143-150(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 935-1151 (ISOFORM 3), AND VARIANTS THR-220;
RP THR-742; ASP-840 AND GLY-1028.
RC TISSUE=Brain, and Hippocampus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ASP-840
RP AND GLY-1028.
RC TISSUE=Ovary;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP VARIANTS [LARGE SCALE ANALYSIS] SER-42 AND MET-223.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: May act as positive axonal guidance cues. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Membrane; Single-pass type III membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9P283-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9P283-2; Sequence=VSP_029462, VSP_029464, VSP_029465;
CC Name=3;
CC IsoId=Q9P283-3; Sequence=VSP_029463;
CC Name=4;
CC IsoId=Q9P283-4; Sequence=VSP_044748;
CC -!- SIMILARITY: Belongs to the semaphorin family. {ECO:0000305}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-59 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA91570.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAA95969.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AB040878; BAA95969.1; ALT_INIT; mRNA.
DR EMBL; AY358124; AAQ88491.1; -; mRNA.
DR EMBL; AK001234; BAA91570.1; ALT_INIT; mRNA.
DR EMBL; AK291407; BAF84096.1; -; mRNA.
DR EMBL; AK295619; BAH12129.1; -; mRNA.
DR EMBL; AC078794; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC083797; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC109130; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471052; EAW79457.1; -; Genomic_DNA.
DR EMBL; BC077726; AAH77726.1; -; mRNA.
DR CCDS; CCDS35491.1; -. [Q9P283-1]
DR CCDS; CCDS58848.1; -. [Q9P283-4]
DR RefSeq; NP_001026872.2; NM_001031702.3. [Q9P283-1]
DR RefSeq; NP_001243275.1; NM_001256346.1. [Q9P283-1]
DR RefSeq; NP_001243276.1; NM_001256347.1. [Q9P283-4]
DR AlphaFoldDB; Q9P283; -.
DR SMR; Q9P283; -.
DR BioGRID; 119953; 10.
DR IntAct; Q9P283; 8.
DR MINT; Q9P283; -.
DR STRING; 9606.ENSP00000389588; -.
DR GlyGen; Q9P283; 5 sites.
DR iPTMnet; Q9P283; -.
DR PhosphoSitePlus; Q9P283; -.
DR BioMuta; SEMA5B; -.
DR DMDM; 212276522; -.
DR EPD; Q9P283; -.
DR jPOST; Q9P283; -.
DR MassIVE; Q9P283; -.
DR MaxQB; Q9P283; -.
DR PaxDb; Q9P283; -.
DR PeptideAtlas; Q9P283; -.
DR PRIDE; Q9P283; -.
DR ProteomicsDB; 30384; -.
DR ProteomicsDB; 83748; -. [Q9P283-1]
DR ProteomicsDB; 83749; -. [Q9P283-2]
DR ProteomicsDB; 83750; -. [Q9P283-3]
DR Antibodypedia; 2250; 121 antibodies from 14 providers.
DR DNASU; 54437; -.
DR Ensembl; ENST00000357599.8; ENSP00000350215.3; ENSG00000082684.16. [Q9P283-1]
DR Ensembl; ENST00000451055.6; ENSP00000389588.2; ENSG00000082684.16. [Q9P283-4]
DR Ensembl; ENST00000616742.4; ENSP00000479602.1; ENSG00000082684.16. [Q9P283-1]
DR GeneID; 54437; -.
DR KEGG; hsa:54437; -.
DR MANE-Select; ENST00000357599.8; ENSP00000350215.3; NM_001031702.4; NP_001026872.2.
DR UCSC; uc003efz.3; human. [Q9P283-1]
DR CTD; 54437; -.
DR DisGeNET; 54437; -.
DR GeneCards; SEMA5B; -.
DR HGNC; HGNC:10737; SEMA5B.
DR HPA; ENSG00000082684; Tissue enhanced (brain).
DR MIM; 609298; gene.
DR neXtProt; NX_Q9P283; -.
DR OpenTargets; ENSG00000082684; -.
DR PharmGKB; PA35659; -.
DR VEuPathDB; HostDB:ENSG00000082684; -.
DR eggNOG; KOG3611; Eukaryota.
DR GeneTree; ENSGT00940000156712; -.
DR InParanoid; Q9P283; -.
DR OMA; AICAFNM; -.
DR OrthoDB; 64683at2759; -.
DR PhylomeDB; Q9P283; -.
DR TreeFam; TF329951; -.
DR PathwayCommons; Q9P283; -.
DR Reactome; R-HSA-5083635; Defective B3GALTL causes PpS.
DR Reactome; R-HSA-5173214; O-glycosylation of TSR domain-containing proteins.
DR SignaLink; Q9P283; -.
DR BioGRID-ORCS; 54437; 13 hits in 1059 CRISPR screens.
DR ChiTaRS; SEMA5B; human.
DR GenomeRNAi; 54437; -.
DR Pharos; Q9P283; Tbio.
DR PRO; PR:Q9P283; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q9P283; protein.
DR Bgee; ENSG00000082684; Expressed in ventricular zone and 135 other tissues.
DR ExpressionAtlas; Q9P283; baseline and differential.
DR Genevisible; Q9P283; HS.
DR GO; GO:0016021; C:integral component of membrane; IBA:GO_Central.
DR GO; GO:0045499; F:chemorepellent activity; IBA:GO_Central.
DR GO; GO:0030215; F:semaphorin receptor binding; IBA:GO_Central.
DR GO; GO:0048675; P:axon extension; IBA:GO_Central.
DR GO; GO:0007411; P:axon guidance; IBA:GO_Central.
DR GO; GO:0050908; P:detection of light stimulus involved in visual perception; IEA:Ensembl.
DR GO; GO:0048843; P:negative regulation of axon extension involved in axon guidance; IBA:GO_Central.
DR GO; GO:0001755; P:neural crest cell migration; IBA:GO_Central.
DR GO; GO:0030335; P:positive regulation of cell migration; IBA:GO_Central.
DR GO; GO:0071526; P:semaphorin-plexin signaling pathway; IBA:GO_Central.
DR Gene3D; 2.130.10.10; -; 1.
DR Gene3D; 2.20.100.10; -; 6.
DR InterPro; IPR002165; Plexin_repeat.
DR InterPro; IPR016201; PSI.
DR InterPro; IPR001627; Semap_dom.
DR InterPro; IPR036352; Semap_dom_sf.
DR InterPro; IPR027231; Semaphorin.
DR InterPro; IPR000884; TSP1_rpt.
DR InterPro; IPR036383; TSP1_rpt_sf.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR PANTHER; PTHR11036; PTHR11036; 3.
DR Pfam; PF01437; PSI; 1.
DR Pfam; PF01403; Sema; 1.
DR Pfam; PF00090; TSP_1; 5.
DR SMART; SM00423; PSI; 1.
DR SMART; SM00630; Sema; 1.
DR SMART; SM00209; TSP1; 5.
DR SUPFAM; SSF101912; SSF101912; 1.
DR SUPFAM; SSF82895; SSF82895; 5.
DR PROSITE; PS51004; SEMA; 1.
DR PROSITE; PS50092; TSP1; 5.
PE 2: Evidence at transcript level;
KW Alternative splicing; Developmental protein; Differentiation;
KW Disulfide bond; Glycoprotein; Membrane; Neurogenesis; Reference proteome;
KW Repeat; Signal-anchor; Transmembrane; Transmembrane helix.
FT CHAIN 1..1151
FT /note="Semaphorin-5B"
FT /id="PRO_0000032337"
FT TOPO_DOM 1..1036
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 1037..1057
FT /note="Helical; Signal-anchor for type III membrane
FT protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 1058..1151
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 103..553
FT /note="Sema"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00352"
FT DOMAIN 664..720
FT /note="TSP type-1 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 722..771
FT /note="TSP type-1 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 853..908
FT /note="TSP type-1 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 910..965
FT /note="TSP type-1 4"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 966..1010
FT /note="TSP type-1 5"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT CARBOHYD 153
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 236
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 345
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 436
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 788
FT /note="O-linked (GalNAc...) threonine"
FT /evidence="ECO:0000255"
FT DISULFID 172..182
FT /evidence="ECO:0000250"
FT DISULFID 199..208
FT /evidence="ECO:0000250"
FT DISULFID 322..425
FT /evidence="ECO:0000250"
FT DISULFID 346..388
FT /evidence="ECO:0000250"
FT DISULFID 556..573
FT /evidence="ECO:0000250"
FT DISULFID 565..582
FT /evidence="ECO:0000250"
FT DISULFID 676..713
FT /evidence="ECO:0000250"
FT DISULFID 680..719
FT /evidence="ECO:0000250"
FT DISULFID 691..703
FT /evidence="ECO:0000250"
FT DISULFID 734..765
FT /evidence="ECO:0000250"
FT DISULFID 738..770
FT /evidence="ECO:0000250"
FT DISULFID 749..755
FT /evidence="ECO:0000250"
FT DISULFID 865..902
FT /evidence="ECO:0000250"
FT DISULFID 869..907
FT /evidence="ECO:0000250"
FT DISULFID 880..892
FT /evidence="ECO:0000250"
FT DISULFID 922..959
FT /evidence="ECO:0000250"
FT DISULFID 926..964
FT /evidence="ECO:0000250"
FT DISULFID 937..949
FT /evidence="ECO:0000250"
FT VAR_SEQ 1
FT /note="M -> MLHLSAEEAIGCVRVRRSFIDELAFGRGHSTGTGKQKRRDRVSGSSW
FT CLACVSWM (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044748"
FT VAR_SEQ 760
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12975309"
FT /id="VSP_029462"
FT VAR_SEQ 944..964
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029463"
FT VAR_SEQ 966
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12975309"
FT /id="VSP_029464"
FT VAR_SEQ 1032..1151
FT /note="FNLIHLVATGISCFLGSGLLTLAVYLSCQHCQRQSQESTLVHPATPNHLHYK
FT GGGTPKNEKYTPMEFKTLNKNNLIPDDRANFYPLQQTNVYTTTYYPSPLNKHSFRPEAS
FT PGQRCFPNS -> KRNRTYLMLRSSQPSSTPLQSLDSFHILLQTAKLCWGPHCFEMGSI
FT SSTWWPRASPASWALGS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12975309"
FT /id="VSP_029465"
FT VARIANT 42
FT /note="G -> S (in a breast cancer sample; somatic mutation;
FT dbSNP:rs148102705)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_037196"
FT VARIANT 220
FT /note="I -> T (in dbSNP:rs2276774)"
FT /evidence="ECO:0000269|PubMed:10819331,
FT ECO:0000269|PubMed:14702039"
FT /id="VAR_037197"
FT VARIANT 223
FT /note="I -> M (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_037198"
FT VARIANT 742
FT /note="M -> T (in dbSNP:rs2276781)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_037199"
FT VARIANT 840
FT /note="V -> D (in dbSNP:rs2276782)"
FT /evidence="ECO:0000269|PubMed:10819331,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334"
FT /id="VAR_037200"
FT VARIANT 996
FT /note="S -> P (in dbSNP:rs35306342)"
FT /id="VAR_037201"
FT VARIANT 1028
FT /note="D -> G (in dbSNP:rs2303983)"
FT /evidence="ECO:0000269|PubMed:10819331,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334"
FT /id="VAR_037202"
FT CONFLICT 703
FT /note="C -> F (in Ref. 2; AAQ88491)"
FT /evidence="ECO:0000305"
FT CONFLICT Q9P283-4:14
FT /note="R -> K (in Ref. 3; BAH12129)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1151 AA; 125913 MW; 96B1D4BC2A1E36C9 CRC64;
MPCGFSPSPV AHHLVPGPPD TPAQQLRCGW TVGGWLLSLV RGLLPCLPPG ARTAEGPIMV
LAGPLAVSLL LPSLTLLVSH LSSSQDVSSE PSSEQQLCAL SKHPTVAFED LQPWVSNFTY
PGARDFSQLA LDPSGNQLIV GARNYLFRLS LANVSLLQAT EWASSEDTRR SCQSKGKTEE
ECQNYVRVLI VAGRKVFMCG TNAFSPMCTS RQVGNLSRTI EKINGVARCP YDPRHNSTAV
ISSQGELYAA TVIDFSGRDP AIYRSLGSGP PLRTAQYNSK WLNEPNFVAA YDIGLFAYFF
LRENAVEHDC GRTVYSRVAR VCKNDVGGRF LLEDTWTTFM KARLNCSRPG EVPFYYNELQ
SAFHLPEQDL IYGVFTTNVN SIAASAVCAF NLSAISQAFN GPFRYQENPR AAWLPIANPI
PNFQCGTLPE TGPNENLTER SLQDAQRLFL MSEAVQPVTP EPCVTQDSVR FSHLVVDLVQ
AKDTLYHVLY IGTESGTILK ALSTASRSLH GCYLEELHVL PPGRREPLRS LRILHSARAL
FVGLRDGVLR VPLERCAAYR SQGACLGARD PYCGWDGKQQ RCSTLEDSSN MSLWTQNITA
CPVRNVTRDG GFGPWSPWQP CEHLDGDNSG SCLCRARSCD SPRPRCGGLD CLGPAIHIAN
CSRNGAWTPW SSWALCSTSC GIGFQVRQRS CSNPAPRHGG RICVGKSREE RFCNENTPCP
VPIFWASWGS WSKCSSNCGG GMQSRRRACE NGNSCLGCGV EFKTCNPEGC PEVRRNTPWT
PWLPVNVTQG GARQEQRFRF TCRAPLADPH GLQFGRRRTE TRTCPADGSG SCDTDALVEV
LLRSGSTSPH TVSGGWAAWG PWSSCSRDCE LGFRVRKRTC TNPEPRNGGL PCVGDAAEYQ
DCNPQACPVR GAWSCWTSWS PCSASCGGGH YQRTRSCTSP APSPGEDICL GLHTEEALCA
TQACPEGWSP WSEWSKCTDD GAQSRSRHCE ELLPGSSACA GNSSQSRPCP YSEIPVILPA
SSMEEATDCA GFNLIHLVAT GISCFLGSGL LTLAVYLSCQ HCQRQSQEST LVHPATPNHL
HYKGGGTPKN EKYTPMEFKT LNKNNLIPDD RANFYPLQQT NVYTTTYYPS PLNKHSFRPE
ASPGQRCFPN S
