Q7Z7G8 (VP13B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Vacuolar protein sorting-associated protein 13B

Alternative name(s):
Cohen syndrome protein 1

Gene names

Name:	VPS13B
Synonyms:	CHS1, COH1, KIAA0532

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	4022 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be involved in protein sorting in post Golgi membrane traffic By similarity.
Tissue specificity	Widely expressed. There is apparent differential expression of different transcripts. In fetal brain, lung, liver, and kidney, two transcripts of 2 and 5 kb are identified. These transcripts are also seen in all adult tissues analyzed. A larger transcript (12-14 kb) is expressed in prostate, testis, ovary, and colon in the adult. Expression is very low in adult brain tissue. Isoform 1 and isoform 2 are expressed in brain and retina. Isoform 2 is expressed ubiquitously. Ref.1 Ref.12
Involvement in disease	Cohen syndrome (COH1) [MIM:216550]: A rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.7 Ref.8 Ref.9 Ref.10 Ref.12
Sequence similarities	Belongs to the VPS13 family.
Sequence caution	The sequence BAC03664.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. Isoform 5: The sequence AAP41106.1 differs from that shown. Reason: erroneous termination (Stop codon at position 412) Isoform 5: The sequence BAA91275.1 differs from that shown. Reason: erroneous termination (Stop codon at position 412)

Ontologies

Keywords
Biological process	Protein transport Transport
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Obesity
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	protein transport Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q7Z7G8-1)

Also known as: 1A;

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 2 (identifier: Q7Z7G8-2)

Also known as: 2A;

The sequence of this isoform differs from the canonical sequence as follows:
     1386-1433: SLGEECWSLGQCGGVFLSCTDKLNRRTLLVRPISKQDPFSNCSGFFPS → RPGEGWQSGHFEGVFLQCKEKSV

Isoform 3 (identifier: Q7Z7G8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1386-1427: SLGEECWSLG...ISKQDPFSNC → RPGEGWQSGH...AMWRCLPFLY
     1428-4022: Missing.

Isoform 4 (identifier: Q7Z7G8-4)

The sequence of this isoform differs from the canonical sequence as follows:
     839-863: GVKSKNPLPTLEGSIQNVELKYCST → EIGSCYVAQVDLELLASNDPPTSTS
     864-4022: Missing.

Isoform 5 (identifier: Q7Z7G8-5)

The sequence of this isoform differs from the canonical sequence as follows:
     403-415: LTEMQVESSYYSP → VGLFSCCLYLYQL
     416-4022: Missing.

Isoform 6 (identifier: Q7Z7G8-6)

The sequence of this isoform differs from the canonical sequence as follows:
     977-977: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 4022	4022	Vacuolar protein sorting-associated protein 13B		PRO_0000065880
Amino acid modifications
	Modified residue	999	1	Phosphoserine By similarity
	Modified residue	1002	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	403 – 415	13	LTEMQ…SYYSP → VGLFSCCLYLYQL in isoform 5.		VSP_009404
	Alternative sequence	416 – 4022	3607	Missing in isoform 5.		VSP_009405
	Alternative sequence	839 – 863	25	GVKSK…KYCST → EIGSCYVAQVDLELLASNDP PTSTS in isoform 4.		VSP_009406
	Alternative sequence	864 – 4022	3159	Missing in isoform 4.		VSP_009407
	Alternative sequence	977	1	Missing in isoform 6.		VSP_039837
	Alternative sequence	1386 – 1433	48	SLGEE…GFFPS → RPGEGWQSGHFEGVFLQCKE KSV in isoform 2.		VSP_009408
	Alternative sequence	1386 – 1427	42	SLGEE…PFSNC → RPGEGWQSGHFEGVFLQCKE KSVPWGRVLVFGAMWRCLPF LY in isoform 3.		VSP_009409
	Alternative sequence	1428 – 4022	2595	Missing in isoform 3.		VSP_009410
	Natural variant	829	1	A → T. Ref.10 Corresponds to variant rs61753721 [ dbSNP | Ensembl ].		VAR_058749
	Natural variant	866	1	V → I. Ref.10		VAR_058750
	Natural variant	1138	1	P → L. Corresponds to variant rs35342235 [ dbSNP | Ensembl ].		VAR_057750
	Natural variant	1494	1	Missing in COH1. Ref.12		VAR_058751
	Natural variant	1739 – 1744	6	Missing in COH1.		VAR_058752
	Natural variant	1994	1	I → V. Ref.10		VAR_058753
	Natural variant	2193	1	L → R in COH1; could be a rare polymorphism. Ref.1		VAR_017759
	Natural variant	2341	1	Y → C in COH1. Ref.8		VAR_038422
	Natural variant	2584	1	V → A. Corresponds to variant rs7833870 [ dbSNP | Ensembl ].		VAR_057751
	Natural variant	2645	1	G → D in COH1. Ref.8		VAR_038423
	Natural variant	2773	1	S → L in COH1. Ref.10		VAR_058754
	Natural variant	2820	1	I → T in COH1. Ref.9		VAR_058755
	Natural variant	2822	1	Y → C. Ref.10		VAR_058756
	Natural variant	2993	1	N → S in COH1. Ref.7 Corresponds to variant rs28940272 [ dbSNP | Ensembl ].		VAR_038424
	Natural variant	3001	1	L → V in a breast cancer sample; somatic mutation. Ref.11		VAR_036325
	Natural variant	3142	1	S → R. Ref.10		VAR_058757
	Natural variant	3432	1	G → R. Corresponds to variant rs6468694 [ dbSNP | Ensembl ].		VAR_057752
Experimental info
	Sequence conflict	401	1	F → S in BAA91275. Ref.3
	Sequence conflict	544	1	M → V in AAP41102. Ref.1
	Sequence conflict	544	1	M → V in AAP41103. Ref.1
	Sequence conflict	544	1	M → V in AAP41104. Ref.1
	Sequence conflict	544	1	M → V in AAP41105. Ref.1
	Sequence conflict	544	1	M → V in BAC03664. Ref.3
	Sequence conflict	618	1	D → N in AAP41102. Ref.1
	Sequence conflict	618	1	D → N in AAP41103. Ref.1
	Sequence conflict	618	1	D → N in AAP41104. Ref.1
	Sequence conflict	618	1	D → N in AAP41105. Ref.1
	Sequence conflict	618	1	D → N in BAC03664. Ref.3
	Sequence conflict	1387	1	L → H in AAP41102. Ref.1
	Sequence conflict	1401	1	F → I in AAP41102. Ref.1
	Sequence conflict	1425	1	S → R in AAP41102. Ref.1
	Sequence conflict	1673	1	A → D in AAP41102. Ref.1
	Sequence conflict	1673	1	A → D in AAP41103. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (1A) [UniParc]. Last modified October 5, 2010. Version 2. Checksum: 35B79EE13730AFE3	FASTA	4,022	448,664
	10 20 30 40 50 60 MLESYVTPIL MSYVNRYIKN LKPSDLQLSL WGGDVVLSKL ELKLDVLEQE LKLPFTFLSG 70 80 90 100 110 120 HIHELRIHVP WTKLGSEPVV ITINTMECIL KLKDGIQDDH ESCGSNSTNR STAESTKSSI 130 140 150 160 170 180 KPRRMQQAAP TDPDLPPGYV QSLIRRVVNN VNIVINNLIL KYVEDDIVLS VNITSAECYT 190 200 210 220 230 240 VGELWDRAFM DISATDLVLR KVINFSDCTV CLDKRNASGK IEFYQDPLLY KCSFRTRLHF 250 260 270 280 290 300 TYENLNSKMP SVIKIHTLVE SLKLSITDQQ LPMFIRIMQL GIALYYGEIG NFKEGEIEDL 310 320 330 340 350 360 TCHNKDMLGN ITGSEDETRI DMQYPAQHKG QELYSQQDEE QPQGWVSWAW SFVPAIVSYD 370 380 390 400 410 420 DGEEDFVGND PASTMHQQKA QTLKDPIVSI GFYCTKATVT FKLTEMQVES SYYSPQKVKS 430 440 450 460 470 480 KEVLCWEQEG TTVEALMMGE PFFDCQIGFV GCRAMCLKGI MGVKDFEENM NRSETEACFF 490 500 510 520 530 540 ICGDNLSTKG FTYLTNSLFD YRSPENNGTR AEFILDSTHH KETYTEIAGM QRFGAFYMDY 550 560 570 580 590 600 LYTMENTSGK GSTNQQDFSS GKSEDLGTVQ EKSTKSLVIG PLDFRLDSSA VHRILKMIVC 610 620 630 640 650 660 ALEHEYEPYS RLKSDIKDEN ETILNPEEVA LLEEYIPTRH TSVTLLKCTC TISMAEFNLL 670 680 690 700 710 720 DHLLPVIMGE KNSSNFMNTT NFQSLRPLPS IRILVDKINL EHSVPMYAEQ LVHVVSSLTQ 730 740 750 760 770 780 PSDNLLHYCY VHCYLKIFGF QAGLTSLDCS GSYCLPVPVI PSFSTALYGK LLKLPTCWTK 790 800 810 820 830 840 RSQIAITEGI FELPNLTIQA TRAQTLLLQA IYQSWSHLGN VSSSAVIEAL INEIFLSIGV 850 860 870 880 890 900 KSKNPLPTLE GSIQNVELKY CSTSLVKCAS GTMGSIKICA KAPVDSGKEK LIPLLQGPSD 910 920 930 940 950 960 TKDLHSTKWL NESRKPESLL APDLMAFTIQ VPQYIDYCHN SGAVLLCSIQ GLAVNIDPIL 970 980 990 1000 1010 1020 YTWLIYQPQK RTSRHMQQQP VVAVPLVMPV CRRKEDEVSI GSAPLAKQQS YQASEYASSP 1030 1040 1050 1060 1070 1080 VKTKTVTESR PLSVPVKAML NISESCRSPE ERMKEFIGIV WNAVKHLTLQ LEVQSCCVFI 1090 1100 1110 1120 1130 1140 PNDSLPSPST IVSGDIPGTV RSWYHGQTSM PGTLVLCLPQ IKIISAGHKY MEPLQEIPFV 1150 1160 1170 1180 1190 1200 IPRPILEEGD AFPWTISLHN FSIYTLLGKQ VTLCLVEPMG CTSTLAVTSQ KLLATGPDTR 1210 1220 1230 1240 1250 1260 HSFVVCLHVD LESLEIKCSN PQVQLFYELT DIMNKVWNKI QKRGNLNLSP TSPETMAGPV 1270 1280 1290 1300 1310 1320 PTSPVRSSIG TAPPDTSTCS PSADIGTTTE GDSIQAGEES PFSDSVTLEQ TTSNIGGTSG 1330 1340 1350 1360 1370 1380 RVSLWMQWVL PKITIKLFAP DPENKGTEVC MVSELEDLSA SIDVQDVYTK VKCKIESFNI 1390 1400 1410 1420 1430 1440 DHYRSSLGEE CWSLGQCGGV FLSCTDKLNR RTLLVRPISK QDPFSNCSGF FPSTTTKLLD 1450 1460 1470 1480 1490 1500 GTHQQHGFLS LTYTKAVTKN VRHKLTSRNE RRSFHKLSEG LMDGSPHFLH EILLSAQAFD 1510 1520 1530 1540 1550 1560 IVLYFPLLNA IASIFQAKLP KTQKEKRKSP GQPMRTHTLT SRNLPLIYVN TSVIRIFIPK 1570 1580 1590 1600 1610 1620 TEEMQPTVEA NQAAKEDTVV LKIGSVAMAP QADNPLGRSV LRKDIYQRAL NLGILRDPGS 1630 1640 1650 1660 1670 1680 EIEDRQYQID LQSINIGTAQ WHQLKPEKES VSGGVVTETE RNSQNPALEW NMASSIRRHQ 1690 1700 1710 1720 1730 1740 ERRAILTPVL TDFSVRITGA PAVIFTKVVS PENLHTEEIL VCGHSLEVNI TTNLDFFLSV 1750 1760 1770 1780 1790 1800 AQVQLLHQLI VANMTGLEPS NKAAEISKQE QKKVDIFDGG MAETSSRYSG AQDSGIGSDS 1810 1820 1830 1840 1850 1860 VKIRIVQIEQ HSGASQHRIA RPSRQSSIVK NLNFIPFDIF ITASRISLMT YSCMALSKSK 1870 1880 1890 1900 1910 1920 SQEQKNNEKT DKSSLNLPEV DSDVAKPNQA CISTVTAEDL LRSSISFPSG KKIGVLSLES 1930 1940 1950 1960 1970 1980 LHASTRSSAR QALGITIVRQ PGRRGTGDLQ LEPFLYFIVS QPSLLLSCHH RKQRVEVSIF 1990 2000 2010 2020 2030 2040 DAVLKGVASD YKCIDPGKTL PEALDYCTVW LQTVPGEIDS KSGIPPSFIT LQIKDFLNGP 2050 2060 2070 2080 2090 2100 ADVNLDISKP LKANLSFTKL DQINLFLKKI KNAHSLAHSE ETSAMSNTMV NKDDLPVSKY 2110 2120 2130 2140 2150 2160 YRGKLSKPKI HGDGVQKISA QENMWRAVSC FQKISVQTTQ IVISMETVPH TSKPCLLASL 2170 2180 2190 2200 2210 2220 SNLNGSLSVK ATQKVPGIIL GSSFLLSIND FLLKTSLKER SRILIGPCCA TANLEAKWCK 2230 2240 2250 2260 2270 2280 HSGNPGPEQS IPKISIDLRG GLLQVFWGQE HLNCLVLLHE LLNGYLNEEG NFEVQVSEPV 2290 2300 2310 2320 2330 2340 PQMSSPVEKN QTFKSEQSSD DLRTGLFQYV QDAESLKLPG VYEVLFYNET EDCPGMMLWR 2350 2360 2370 2380 2390 2400 YPEPRVLTLV RITPVPFNTT EDPDISTADL GDVLQVPCSL EYWDELQKVF VAFREFNLSE 2410 2420 2430 2440 2450 2460 SKVCELQLPD INLVNDQKKL VSSDLWRIVL NSSQNGADDQ SSASESGSQS TCDPLVTPTA 2470 2480 2490 2500 2510 2520 LAACTRVDSC FTPWFVPSLC VSFQFAHLEF HLCHHLDQLG TAAPQYLQPF VSDRNMPSEL 2530 2540 2550 2560 2570 2580 EYMIVSFREP HMYLRQWNNG SVCQEIQFLA QADCKLLECR NVTMQSVVKP FSIFGQMAVS 2590 2600 2610 2620 2630 2640 SDVVEKLLDC TVIVDSVFVN LGQHVVHSLN TAIQAWQQNK CPEVEELVFS HFVICNDTQE 2650 2660 2670 2680 2690 2700 TLRFGQVDTD ENILLASLHS HQYSWRSHKS PQLLHICIEG WGNWRWSEPF SVDHAGTFIR 2710 2720 2730 2740 2750 2760 TIQYRGRTAS LIIKVQQLNG VQKQIIICGR QIICSYLSQS IELKVVQHYI GQDGQAVVRE 2770 2780 2790 2800 2810 2820 HFDCLTAKQK LPSYILENNE LTELCVKAKG DEDWSRDVCL ESKAPEYSIV IQVPSSNSSI 2830 2840 2850 2860 2870 2880 IYVWCTVLTL EPNSQVQQRM IVFSPLFIMR SHLPDPIIIH LEKRSLGLSE TQIIPGKGQE 2890 2900 2910 2920 2930 2940 KPLQNIEPDL VHHLTFQARE EYDPSDCAVP ISTSLIKQIA TKVHPGGTVN QILDEFYGPE 2950 2960 2970 2980 2990 3000 KSLQPIWPYN KKDSDRNEQL SQWDSPMRVK LSIWKPYVRT LLIELLPWAL LINESKWDLW 3010 3020 3030 3040 3050 3060 LFEGEKIVLQ VPAGKIIIPP NFQEAFQIGI YWANTNTVHK SVAIKLVHNL TSPKWKDGGN 3070 3080 3090 3100 3110 3120 GEVVTLDEEA FVDTEIRLGA FPGHQKLCQF CISSMVQQGI QIIQIEDKTT IINNTPYQIF 3130 3140 3150 3160 3170 3180 YKPQLSVCNP HSGKEYFRVP DSATFSICPG GEQPAMKSSS LPCWDLMPDI SQSVLDASLL 3190 3200 3210 3220 3230 3240 QKQIMLGFSP APGADSSQCW SLPAIVRPEF PRQSVAVPLG NFRENGFCTR AIVLTYQEHL 3250 3260 3270 3280 3290 3300 GVTYLTLSED PSPRVIIHNR CPVKMLIKEN IKDIPKFEVY CKKIPSECSI HHELYHQISS 3310 3320 3330 3340 3350 3360 YPDCKTKDLL PSLLLRVEPL DEVTTEWSDA IDINSQGTQV VFLTGFGYVY VDVVHQCGTV 3370 3380 3390 3400 3410 3420 FITVAPEGKA GPILTNTNRA PEKIVTFKMF ITQLSLAVFD DLTHHKASAE LLRLTLDNIF 3430 3440 3450 3460 3470 3480 LCVAPGAGPL PGEEPVAALF ELYCVEICCG DLQLDNQLYN KSNFHFAVLV CQGEKAEPIQ 3490 3500 3510 3520 3530 3540 CSKMQSLLIS NKELEEYKEK CFIKLCITLN EGKSILCDIN EFSFELKPAR LYVEDTFVYY 3550 3560 3570 3580 3590 3600 IKTLFDTYLP NSRLAGHSTH LSGGKQVLPM QVTQHARALV NPVKLRKLVI QPVNLLVSIH 3610 3620 3630 3640 3650 3660 ASLKLYIASD HTPLSFSVFE RGPIFTTARQ LVHALAMHYA AGALFRAGWV VGSLDILGSP 3670 3680 3690 3700 3710 3720 ASLVRSIGNG VADFFRLPYE GLTRGPGAFV SGVSRGTTSF VKHISKGTLT SITNLATSLA 3730 3740 3750 3760 3770 3780 RNMDRLSLDE EHYNRQEEWR RQLPESLGEG LRQGLSRLGI SLLGAIAGIV DQPMQNFQKT 3790 3800 3810 3820 3830 3840 SEAQASAGHK AKGVISGVGK GIMGVFTKPI GGAAELVSQT GYGILHGAGL SQLPKQRHQP 3850 3860 3870 3880 3890 3900 SDLHADQAPN SHVKYVWKML QSLGRPEVHM ALDVVLVRGS GQEHEGCLLL TSEVLFVVSV 3910 3920 3930 3940 3950 3960 SEDTQQQAFP VTEIDCAQDS KQNNLLTVQL KQPRVACDVE VDGVRERLSE QQYNRLVDYI 3970 3980 3990 4000 4010 4020 TKTSCHLAPS CSSMQIPCPV VAAEPPPSTV KTYHYLVDPH FAQVFLSKFT MVKNKALRKG FP
	Isoform 2 (2A) [UniParc]. Checksum: 6EC3A1177E48E2C4	FASTA	3,997	445,988
	10 20 30 40 50 60 MLESYVTPIL MSYVNRYIKN LKPSDLQLSL WGGDVVLSKL ELKLDVLEQE LKLPFTFLSG 70 80 90 100 110 120 HIHELRIHVP WTKLGSEPVV ITINTMECIL KLKDGIQDDH ESCGSNSTNR STAESTKSSI 130 140 150 160 170 180 KPRRMQQAAP TDPDLPPGYV QSLIRRVVNN VNIVINNLIL KYVEDDIVLS VNITSAECYT 190 200 210 220 230 240 VGELWDRAFM DISATDLVLR KVINFSDCTV CLDKRNASGK IEFYQDPLLY KCSFRTRLHF 250 260 270 280 290 300 TYENLNSKMP SVIKIHTLVE SLKLSITDQQ LPMFIRIMQL GIALYYGEIG NFKEGEIEDL 310 320 330 340 350 360 TCHNKDMLGN ITGSEDETRI DMQYPAQHKG QELYSQQDEE QPQGWVSWAW SFVPAIVSYD 370 380 390 400 410 420 DGEEDFVGND PASTMHQQKA QTLKDPIVSI GFYCTKATVT FKLTEMQVES SYYSPQKVKS 430 440 450 460 470 480 KEVLCWEQEG TTVEALMMGE PFFDCQIGFV GCRAMCLKGI MGVKDFEENM NRSETEACFF 490 500 510 520 530 540 ICGDNLSTKG FTYLTNSLFD YRSPENNGTR AEFILDSTHH KETYTEIAGM QRFGAFYMDY 550 560 570 580 590 600 LYTMENTSGK GSTNQQDFSS GKSEDLGTVQ EKSTKSLVIG PLDFRLDSSA VHRILKMIVC 610 620 630 640 650 660 ALEHEYEPYS RLKSDIKDEN ETILNPEEVA LLEEYIPTRH TSVTLLKCTC TISMAEFNLL 670 680 690 700 710 720 DHLLPVIMGE KNSSNFMNTT NFQSLRPLPS IRILVDKINL EHSVPMYAEQ LVHVVSSLTQ 730 740 750 760 770 780 PSDNLLHYCY VHCYLKIFGF QAGLTSLDCS GSYCLPVPVI PSFSTALYGK LLKLPTCWTK 790 800 810 820 830 840 RSQIAITEGI FELPNLTIQA TRAQTLLLQA IYQSWSHLGN VSSSAVIEAL INEIFLSIGV 850 860 870 880 890 900 KSKNPLPTLE GSIQNVELKY CSTSLVKCAS GTMGSIKICA KAPVDSGKEK LIPLLQGPSD 910 920 930 940 950 960 TKDLHSTKWL NESRKPESLL APDLMAFTIQ VPQYIDYCHN SGAVLLCSIQ GLAVNIDPIL 970 980 990 1000 1010 1020 YTWLIYQPQK RTSRHMQQQP VVAVPLVMPV CRRKEDEVSI GSAPLAKQQS YQASEYASSP 1030 1040 1050 1060 1070 1080 VKTKTVTESR PLSVPVKAML NISESCRSPE ERMKEFIGIV WNAVKHLTLQ LEVQSCCVFI 1090 1100 1110 1120 1130 1140 PNDSLPSPST IVSGDIPGTV RSWYHGQTSM PGTLVLCLPQ IKIISAGHKY MEPLQEIPFV 1150 1160 1170 1180 1190 1200 IPRPILEEGD AFPWTISLHN FSIYTLLGKQ VTLCLVEPMG CTSTLAVTSQ KLLATGPDTR 1210 1220 1230 1240 1250 1260 HSFVVCLHVD LESLEIKCSN PQVQLFYELT DIMNKVWNKI QKRGNLNLSP TSPETMAGPV 1270 1280 1290 1300 1310 1320 PTSPVRSSIG TAPPDTSTCS PSADIGTTTE GDSIQAGEES PFSDSVTLEQ TTSNIGGTSG 1330 1340 1350 1360 1370 1380 RVSLWMQWVL PKITIKLFAP DPENKGTEVC MVSELEDLSA SIDVQDVYTK VKCKIESFNI 1390 1400 1410 1420 1430 1440 DHYRSRPGEG WQSGHFEGVF LQCKEKSVTT TKLLDGTHQQ HGFLSLTYTK AVTKNVRHKL 1450 1460 1470 1480 1490 1500 TSRNERRSFH KLSEGLMDGS PHFLHEILLS AQAFDIVLYF PLLNAIASIF QAKLPKTQKE 1510 1520 1530 1540 1550 1560 KRKSPGQPMR THTLTSRNLP LIYVNTSVIR IFIPKTEEMQ PTVEANQAAK EDTVVLKIGS 1570 1580 1590 1600 1610 1620 VAMAPQADNP LGRSVLRKDI YQRALNLGIL RDPGSEIEDR QYQIDLQSIN IGTAQWHQLK 1630 1640 1650 1660 1670 1680 PEKESVSGGV VTETERNSQN PALEWNMASS IRRHQERRAI LTPVLTDFSV RITGAPAVIF 1690 1700 1710 1720 1730 1740 TKVVSPENLH TEEILVCGHS LEVNITTNLD FFLSVAQVQL LHQLIVANMT GLEPSNKAAE 1750 1760 1770 1780 1790 1800 ISKQEQKKVD IFDGGMAETS SRYSGAQDSG IGSDSVKIRI VQIEQHSGAS QHRIARPSRQ 1810 1820 1830 1840 1850 1860 SSIVKNLNFI PFDIFITASR ISLMTYSCMA LSKSKSQEQK NNEKTDKSSL NLPEVDSDVA 1870 1880 1890 1900 1910 1920 KPNQACISTV TAEDLLRSSI SFPSGKKIGV LSLESLHAST RSSARQALGI TIVRQPGRRG 1930 1940 1950 1960 1970 1980 TGDLQLEPFL YFIVSQPSLL LSCHHRKQRV EVSIFDAVLK GVASDYKCID PGKTLPEALD 1990 2000 2010 2020 2030 2040 YCTVWLQTVP GEIDSKSGIP PSFITLQIKD FLNGPADVNL DISKPLKANL SFTKLDQINL 2050 2060 2070 2080 2090 2100 FLKKIKNAHS LAHSEETSAM SNTMVNKDDL PVSKYYRGKL SKPKIHGDGV QKISAQENMW 2110 2120 2130 2140 2150 2160 RAVSCFQKIS VQTTQIVISM ETVPHTSKPC LLASLSNLNG SLSVKATQKV PGIILGSSFL 2170 2180 2190 2200 2210 2220 LSINDFLLKT SLKERSRILI GPCCATANLE AKWCKHSGNP GPEQSIPKIS IDLRGGLLQV 2230 2240 2250 2260 2270 2280 FWGQEHLNCL VLLHELLNGY LNEEGNFEVQ VSEPVPQMSS PVEKNQTFKS EQSSDDLRTG 2290 2300 2310 2320 2330 2340 LFQYVQDAES LKLPGVYEVL FYNETEDCPG MMLWRYPEPR VLTLVRITPV PFNTTEDPDI 2350 2360 2370 2380 2390 2400 STADLGDVLQ VPCSLEYWDE LQKVFVAFRE FNLSESKVCE LQLPDINLVN DQKKLVSSDL 2410 2420 2430 2440 2450 2460 WRIVLNSSQN GADDQSSASE SGSQSTCDPL VTPTALAACT RVDSCFTPWF VPSLCVSFQF 2470 2480 2490 2500 2510 2520 AHLEFHLCHH LDQLGTAAPQ YLQPFVSDRN MPSELEYMIV SFREPHMYLR QWNNGSVCQE 2530 2540 2550 2560 2570 2580 IQFLAQADCK LLECRNVTMQ SVVKPFSIFG QMAVSSDVVE KLLDCTVIVD SVFVNLGQHV 2590 2600 2610 2620 2630 2640 VHSLNTAIQA WQQNKCPEVE ELVFSHFVIC NDTQETLRFG QVDTDENILL ASLHSHQYSW 2650 2660 2670 2680 2690 2700 RSHKSPQLLH ICIEGWGNWR WSEPFSVDHA GTFIRTIQYR GRTASLIIKV QQLNGVQKQI 2710 2720 2730 2740 2750 2760 IICGRQIICS YLSQSIELKV VQHYIGQDGQ AVVREHFDCL TAKQKLPSYI LENNELTELC 2770 2780 2790 2800 2810 2820 VKAKGDEDWS RDVCLESKAP EYSIVIQVPS SNSSIIYVWC TVLTLEPNSQ VQQRMIVFSP 2830 2840 2850 2860 2870 2880 LFIMRSHLPD PIIIHLEKRS LGLSETQIIP GKGQEKPLQN IEPDLVHHLT FQAREEYDPS 2890 2900 2910 2920 2930 2940 DCAVPISTSL IKQIATKVHP GGTVNQILDE FYGPEKSLQP IWPYNKKDSD RNEQLSQWDS 2950 2960 2970 2980 2990 3000 PMRVKLSIWK PYVRTLLIEL LPWALLINES KWDLWLFEGE KIVLQVPAGK IIIPPNFQEA 3010 3020 3030 3040 3050 3060 FQIGIYWANT NTVHKSVAIK LVHNLTSPKW KDGGNGEVVT LDEEAFVDTE IRLGAFPGHQ 3070 3080 3090 3100 3110 3120 KLCQFCISSM VQQGIQIIQI EDKTTIINNT PYQIFYKPQL SVCNPHSGKE YFRVPDSATF 3130 3140 3150 3160 3170 3180 SICPGGEQPA MKSSSLPCWD LMPDISQSVL DASLLQKQIM LGFSPAPGAD SSQCWSLPAI 3190 3200 3210 3220 3230 3240 VRPEFPRQSV AVPLGNFREN GFCTRAIVLT YQEHLGVTYL TLSEDPSPRV IIHNRCPVKM 3250 3260 3270 3280 3290 3300 LIKENIKDIP KFEVYCKKIP SECSIHHELY HQISSYPDCK TKDLLPSLLL RVEPLDEVTT 3310 3320 3330 3340 3350 3360 EWSDAIDINS QGTQVVFLTG FGYVYVDVVH QCGTVFITVA PEGKAGPILT NTNRAPEKIV 3370 3380 3390 3400 3410 3420 TFKMFITQLS LAVFDDLTHH KASAELLRLT LDNIFLCVAP GAGPLPGEEP VAALFELYCV 3430 3440 3450 3460 3470 3480 EICCGDLQLD NQLYNKSNFH FAVLVCQGEK AEPIQCSKMQ SLLISNKELE EYKEKCFIKL 3490 3500 3510 3520 3530 3540 CITLNEGKSI LCDINEFSFE LKPARLYVED TFVYYIKTLF DTYLPNSRLA GHSTHLSGGK 3550 3560 3570 3580 3590 3600 QVLPMQVTQH ARALVNPVKL RKLVIQPVNL LVSIHASLKL YIASDHTPLS FSVFERGPIF 3610 3620 3630 3640 3650 3660 TTARQLVHAL AMHYAAGALF RAGWVVGSLD ILGSPASLVR SIGNGVADFF RLPYEGLTRG 3670 3680 3690 3700 3710 3720 PGAFVSGVSR GTTSFVKHIS KGTLTSITNL ATSLARNMDR LSLDEEHYNR QEEWRRQLPE 3730 3740 3750 3760 3770 3780 SLGEGLRQGL SRLGISLLGA IAGIVDQPMQ NFQKTSEAQA SAGHKAKGVI SGVGKGIMGV 3790 3800 3810 3820 3830 3840 FTKPIGGAAE LVSQTGYGIL HGAGLSQLPK QRHQPSDLHA DQAPNSHVKY VWKMLQSLGR 3850 3860 3870 3880 3890 3900 PEVHMALDVV LVRGSGQEHE GCLLLTSEVL FVVSVSEDTQ QQAFPVTEID CAQDSKQNNL 3910 3920 3930 3940 3950 3960 LTVQLKQPRV ACDVEVDGVR ERLSEQQYNR LVDYITKTSC HLAPSCSSMQ IPCPVVAAEP 3970 3980 3990 PPSTVKTYHY LVDPHFAQVF LSKFTMVKNK ALRKGFP
	Isoform 3 [UniParc]. Checksum: 6893DF0E105FFD2F	FASTA	1,427	159,614
	10 20 30 40 50 60 MLESYVTPIL MSYVNRYIKN LKPSDLQLSL WGGDVVLSKL ELKLDVLEQE LKLPFTFLSG 70 80 90 100 110 120 HIHELRIHVP WTKLGSEPVV ITINTMECIL KLKDGIQDDH ESCGSNSTNR STAESTKSSI 130 140 150 160 170 180 KPRRMQQAAP TDPDLPPGYV QSLIRRVVNN VNIVINNLIL KYVEDDIVLS VNITSAECYT 190 200 210 220 230 240 VGELWDRAFM DISATDLVLR KVINFSDCTV CLDKRNASGK IEFYQDPLLY KCSFRTRLHF 250 260 270 280 290 300 TYENLNSKMP SVIKIHTLVE SLKLSITDQQ LPMFIRIMQL GIALYYGEIG NFKEGEIEDL 310 320 330 340 350 360 TCHNKDMLGN ITGSEDETRI DMQYPAQHKG QELYSQQDEE QPQGWVSWAW SFVPAIVSYD 370 380 390 400 410 420 DGEEDFVGND PASTMHQQKA QTLKDPIVSI GFYCTKATVT FKLTEMQVES SYYSPQKVKS 430 440 450 460 470 480 KEVLCWEQEG TTVEALMMGE PFFDCQIGFV GCRAMCLKGI MGVKDFEENM NRSETEACFF 490 500 510 520 530 540 ICGDNLSTKG FTYLTNSLFD YRSPENNGTR AEFILDSTHH KETYTEIAGM QRFGAFYMDY 550 560 570 580 590 600 LYTMENTSGK GSTNQQDFSS GKSEDLGTVQ EKSTKSLVIG PLDFRLDSSA VHRILKMIVC 610 620 630 640 650 660 ALEHEYEPYS RLKSDIKDEN ETILNPEEVA LLEEYIPTRH TSVTLLKCTC TISMAEFNLL 670 680 690 700 710 720 DHLLPVIMGE KNSSNFMNTT NFQSLRPLPS IRILVDKINL EHSVPMYAEQ LVHVVSSLTQ 730 740 750 760 770 780 PSDNLLHYCY VHCYLKIFGF QAGLTSLDCS GSYCLPVPVI PSFSTALYGK LLKLPTCWTK 790 800 810 820 830 840 RSQIAITEGI FELPNLTIQA TRAQTLLLQA IYQSWSHLGN VSSSAVIEAL INEIFLSIGV 850 860 870 880 890 900 KSKNPLPTLE GSIQNVELKY CSTSLVKCAS GTMGSIKICA KAPVDSGKEK LIPLLQGPSD 910 920 930 940 950 960 TKDLHSTKWL NESRKPESLL APDLMAFTIQ VPQYIDYCHN SGAVLLCSIQ GLAVNIDPIL 970 980 990 1000 1010 1020 YTWLIYQPQK RTSRHMQQQP VVAVPLVMPV CRRKEDEVSI GSAPLAKQQS YQASEYASSP 1030 1040 1050 1060 1070 1080 VKTKTVTESR PLSVPVKAML NISESCRSPE ERMKEFIGIV WNAVKHLTLQ LEVQSCCVFI 1090 1100 1110 1120 1130 1140 PNDSLPSPST IVSGDIPGTV RSWYHGQTSM PGTLVLCLPQ IKIISAGHKY MEPLQEIPFV 1150 1160 1170 1180 1190 1200 IPRPILEEGD AFPWTISLHN FSIYTLLGKQ VTLCLVEPMG CTSTLAVTSQ KLLATGPDTR 1210 1220 1230 1240 1250 1260 HSFVVCLHVD LESLEIKCSN PQVQLFYELT DIMNKVWNKI QKRGNLNLSP TSPETMAGPV 1270 1280 1290 1300 1310 1320 PTSPVRSSIG TAPPDTSTCS PSADIGTTTE GDSIQAGEES PFSDSVTLEQ TTSNIGGTSG 1330 1340 1350 1360 1370 1380 RVSLWMQWVL PKITIKLFAP DPENKGTEVC MVSELEDLSA SIDVQDVYTK VKCKIESFNI 1390 1400 1410 1420 DHYRSRPGEG WQSGHFEGVF LQCKEKSVPW GRVLVFGAMW RCLPFLY
	Isoform 4 [UniParc]. Checksum: A2FA2A03674406F4	FASTA	863	97,404
	10 20 30 40 50 60 MLESYVTPIL MSYVNRYIKN LKPSDLQLSL WGGDVVLSKL ELKLDVLEQE LKLPFTFLSG 70 80 90 100 110 120 HIHELRIHVP WTKLGSEPVV ITINTMECIL KLKDGIQDDH ESCGSNSTNR STAESTKSSI 130 140 150 160 170 180 KPRRMQQAAP TDPDLPPGYV QSLIRRVVNN VNIVINNLIL KYVEDDIVLS VNITSAECYT 190 200 210 220 230 240 VGELWDRAFM DISATDLVLR KVINFSDCTV CLDKRNASGK IEFYQDPLLY KCSFRTRLHF 250 260 270 280 290 300 TYENLNSKMP SVIKIHTLVE SLKLSITDQQ LPMFIRIMQL GIALYYGEIG NFKEGEIEDL 310 320 330 340 350 360 TCHNKDMLGN ITGSEDETRI DMQYPAQHKG QELYSQQDEE QPQGWVSWAW SFVPAIVSYD 370 380 390 400 410 420 DGEEDFVGND PASTMHQQKA QTLKDPIVSI GFYCTKATVT FKLTEMQVES SYYSPQKVKS 430 440 450 460 470 480 KEVLCWEQEG TTVEALMMGE PFFDCQIGFV GCRAMCLKGI MGVKDFEENM NRSETEACFF 490 500 510 520 530 540 ICGDNLSTKG FTYLTNSLFD YRSPENNGTR AEFILDSTHH KETYTEIAGM QRFGAFYMDY 550 560 570 580 590 600 LYTMENTSGK GSTNQQDFSS GKSEDLGTVQ EKSTKSLVIG PLDFRLDSSA VHRILKMIVC 610 620 630 640 650 660 ALEHEYEPYS RLKSDIKDEN ETILNPEEVA LLEEYIPTRH TSVTLLKCTC TISMAEFNLL 670 680 690 700 710 720 DHLLPVIMGE KNSSNFMNTT NFQSLRPLPS IRILVDKINL EHSVPMYAEQ LVHVVSSLTQ 730 740 750 760 770 780 PSDNLLHYCY VHCYLKIFGF QAGLTSLDCS GSYCLPVPVI PSFSTALYGK LLKLPTCWTK 790 800 810 820 830 840 RSQIAITEGI FELPNLTIQA TRAQTLLLQA IYQSWSHLGN VSSSAVIEAL INEIFLSIEI 850 860 GSCYVAQVDL ELLASNDPPT STS
	Isoform 5 [UniParc]. Checksum: D3EB3552F9CC5737	FASTA	415	47,210
	10 20 30 40 50 60 MLESYVTPIL MSYVNRYIKN LKPSDLQLSL WGGDVVLSKL ELKLDVLEQE LKLPFTFLSG 70 80 90 100 110 120 HIHELRIHVP WTKLGSEPVV ITINTMECIL KLKDGIQDDH ESCGSNSTNR STAESTKSSI 130 140 150 160 170 180 KPRRMQQAAP TDPDLPPGYV QSLIRRVVNN VNIVINNLIL KYVEDDIVLS VNITSAECYT 190 200 210 220 230 240 VGELWDRAFM DISATDLVLR KVINFSDCTV CLDKRNASGK IEFYQDPLLY KCSFRTRLHF 250 260 270 280 290 300 TYENLNSKMP SVIKIHTLVE SLKLSITDQQ LPMFIRIMQL GIALYYGEIG NFKEGEIEDL 310 320 330 340 350 360 TCHNKDMLGN ITGSEDETRI DMQYPAQHKG QELYSQQDEE QPQGWVSWAW SFVPAIVSYD 370 380 390 400 410 DGEEDFVGND PASTMHQQKA QTLKDPIVSI GFYCTKATVT FKVGLFSCCL YLYQL
	Isoform 6 [UniParc]. Checksum: A946700FAF21CC1D	FASTA	4,021	448,536
	10 20 30 40 50 60 MLESYVTPIL MSYVNRYIKN LKPSDLQLSL WGGDVVLSKL ELKLDVLEQE LKLPFTFLSG 70 80 90 100 110 120 HIHELRIHVP WTKLGSEPVV ITINTMECIL KLKDGIQDDH ESCGSNSTNR STAESTKSSI 130 140 150 160 170 180 KPRRMQQAAP TDPDLPPGYV QSLIRRVVNN VNIVINNLIL KYVEDDIVLS VNITSAECYT 190 200 210 220 230 240 VGELWDRAFM DISATDLVLR KVINFSDCTV CLDKRNASGK IEFYQDPLLY KCSFRTRLHF 250 260 270 280 290 300 TYENLNSKMP SVIKIHTLVE SLKLSITDQQ LPMFIRIMQL GIALYYGEIG NFKEGEIEDL 310 320 330 340 350 360 TCHNKDMLGN ITGSEDETRI DMQYPAQHKG QELYSQQDEE QPQGWVSWAW SFVPAIVSYD 370 380 390 400 410 420 DGEEDFVGND PASTMHQQKA QTLKDPIVSI GFYCTKATVT FKLTEMQVES SYYSPQKVKS 430 440 450 460 470 480 KEVLCWEQEG TTVEALMMGE PFFDCQIGFV GCRAMCLKGI MGVKDFEENM NRSETEACFF 490 500 510 520 530 540 ICGDNLSTKG FTYLTNSLFD YRSPENNGTR AEFILDSTHH KETYTEIAGM QRFGAFYMDY 550 560 570 580 590 600 LYTMENTSGK GSTNQQDFSS GKSEDLGTVQ EKSTKSLVIG PLDFRLDSSA VHRILKMIVC 610 620 630 640 650 660 ALEHEYEPYS RLKSDIKDEN ETILNPEEVA LLEEYIPTRH TSVTLLKCTC TISMAEFNLL 670 680 690 700 710 720 DHLLPVIMGE KNSSNFMNTT NFQSLRPLPS IRILVDKINL EHSVPMYAEQ LVHVVSSLTQ 730 740 750 760 770 780 PSDNLLHYCY VHCYLKIFGF QAGLTSLDCS GSYCLPVPVI PSFSTALYGK LLKLPTCWTK 790 800 810 820 830 840 RSQIAITEGI FELPNLTIQA TRAQTLLLQA IYQSWSHLGN VSSSAVIEAL INEIFLSIGV 850 860 870 880 890 900 KSKNPLPTLE GSIQNVELKY CSTSLVKCAS GTMGSIKICA KAPVDSGKEK LIPLLQGPSD 910 920 930 940 950 960 TKDLHSTKWL NESRKPESLL APDLMAFTIQ VPQYIDYCHN SGAVLLCSIQ GLAVNIDPIL 970 980 990 1000 1010 1020 YTWLIYQPQK RTSRHMQQPV VAVPLVMPVC RRKEDEVSIG SAPLAKQQSY QASEYASSPV 1030 1040 1050 1060 1070 1080 KTKTVTESRP LSVPVKAMLN ISESCRSPEE RMKEFIGIVW NAVKHLTLQL EVQSCCVFIP 1090 1100 1110 1120 1130 1140 NDSLPSPSTI VSGDIPGTVR SWYHGQTSMP GTLVLCLPQI KIISAGHKYM EPLQEIPFVI 1150 1160 1170 1180 1190 1200 PRPILEEGDA FPWTISLHNF SIYTLLGKQV TLCLVEPMGC TSTLAVTSQK LLATGPDTRH 1210 1220 1230 1240 1250 1260 SFVVCLHVDL ESLEIKCSNP QVQLFYELTD IMNKVWNKIQ KRGNLNLSPT SPETMAGPVP 1270 1280 1290 1300 1310 1320 TSPVRSSIGT APPDTSTCSP SADIGTTTEG DSIQAGEESP FSDSVTLEQT TSNIGGTSGR 1330 1340 1350 1360 1370 1380 VSLWMQWVLP KITIKLFAPD PENKGTEVCM VSELEDLSAS IDVQDVYTKV KCKIESFNID 1390 1400 1410 1420 1430 1440 HYRSSLGEEC WSLGQCGGVF LSCTDKLNRR TLLVRPISKQ DPFSNCSGFF PSTTTKLLDG 1450 1460 1470 1480 1490 1500 THQQHGFLSL TYTKAVTKNV RHKLTSRNER RSFHKLSEGL MDGSPHFLHE ILLSAQAFDI 1510 1520 1530 1540 1550 1560 VLYFPLLNAI ASIFQAKLPK TQKEKRKSPG QPMRTHTLTS RNLPLIYVNT SVIRIFIPKT 1570 1580 1590 1600 1610 1620 EEMQPTVEAN QAAKEDTVVL KIGSVAMAPQ ADNPLGRSVL RKDIYQRALN LGILRDPGSE 1630 1640 1650 1660 1670 1680 IEDRQYQIDL QSINIGTAQW HQLKPEKESV SGGVVTETER NSQNPALEWN MASSIRRHQE 1690 1700 1710 1720 1730 1740 RRAILTPVLT DFSVRITGAP AVIFTKVVSP ENLHTEEILV CGHSLEVNIT TNLDFFLSVA 1750 1760 1770 1780 1790 1800 QVQLLHQLIV ANMTGLEPSN KAAEISKQEQ KKVDIFDGGM AETSSRYSGA QDSGIGSDSV 1810 1820 1830 1840 1850 1860 KIRIVQIEQH SGASQHRIAR PSRQSSIVKN LNFIPFDIFI TASRISLMTY SCMALSKSKS 1870 1880 1890 1900 1910 1920 QEQKNNEKTD KSSLNLPEVD SDVAKPNQAC ISTVTAEDLL RSSISFPSGK KIGVLSLESL 1930 1940 1950 1960 1970 1980 HASTRSSARQ ALGITIVRQP GRRGTGDLQL EPFLYFIVSQ PSLLLSCHHR KQRVEVSIFD 1990 2000 2010 2020 2030 2040 AVLKGVASDY KCIDPGKTLP EALDYCTVWL QTVPGEIDSK SGIPPSFITL QIKDFLNGPA 2050 2060 2070 2080 2090 2100 DVNLDISKPL KANLSFTKLD QINLFLKKIK NAHSLAHSEE TSAMSNTMVN KDDLPVSKYY 2110 2120 2130 2140 2150 2160 RGKLSKPKIH GDGVQKISAQ ENMWRAVSCF QKISVQTTQI VISMETVPHT SKPCLLASLS 2170 2180 2190 2200 2210 2220 NLNGSLSVKA TQKVPGIILG SSFLLSINDF LLKTSLKERS RILIGPCCAT ANLEAKWCKH 2230 2240 2250 2260 2270 2280 SGNPGPEQSI PKISIDLRGG LLQVFWGQEH LNCLVLLHEL LNGYLNEEGN FEVQVSEPVP 2290 2300 2310 2320 2330 2340 QMSSPVEKNQ TFKSEQSSDD LRTGLFQYVQ DAESLKLPGV YEVLFYNETE DCPGMMLWRY 2350 2360 2370 2380 2390 2400 PEPRVLTLVR ITPVPFNTTE DPDISTADLG DVLQVPCSLE YWDELQKVFV AFREFNLSES 2410 2420 2430 2440 2450 2460 KVCELQLPDI NLVNDQKKLV SSDLWRIVLN SSQNGADDQS SASESGSQST CDPLVTPTAL 2470 2480 2490 2500 2510 2520 AACTRVDSCF TPWFVPSLCV SFQFAHLEFH LCHHLDQLGT AAPQYLQPFV SDRNMPSELE 2530 2540 2550 2560 2570 2580 YMIVSFREPH MYLRQWNNGS VCQEIQFLAQ ADCKLLECRN VTMQSVVKPF SIFGQMAVSS 2590 2600 2610 2620 2630 2640 DVVEKLLDCT VIVDSVFVNL GQHVVHSLNT AIQAWQQNKC PEVEELVFSH FVICNDTQET 2650 2660 2670 2680 2690 2700 LRFGQVDTDE NILLASLHSH QYSWRSHKSP QLLHICIEGW GNWRWSEPFS VDHAGTFIRT 2710 2720 2730 2740 2750 2760 IQYRGRTASL IIKVQQLNGV QKQIIICGRQ IICSYLSQSI ELKVVQHYIG QDGQAVVREH 2770 2780 2790 2800 2810 2820 FDCLTAKQKL PSYILENNEL TELCVKAKGD EDWSRDVCLE SKAPEYSIVI QVPSSNSSII 2830 2840 2850 2860 2870 2880 YVWCTVLTLE PNSQVQQRMI VFSPLFIMRS HLPDPIIIHL EKRSLGLSET QIIPGKGQEK 2890 2900 2910 2920 2930 2940 PLQNIEPDLV HHLTFQAREE YDPSDCAVPI STSLIKQIAT KVHPGGTVNQ ILDEFYGPEK 2950 2960 2970 2980 2990 3000 SLQPIWPYNK KDSDRNEQLS QWDSPMRVKL SIWKPYVRTL LIELLPWALL INESKWDLWL 3010 3020 3030 3040 3050 3060 FEGEKIVLQV PAGKIIIPPN FQEAFQIGIY WANTNTVHKS VAIKLVHNLT SPKWKDGGNG 3070 3080 3090 3100 3110 3120 EVVTLDEEAF VDTEIRLGAF PGHQKLCQFC ISSMVQQGIQ IIQIEDKTTI INNTPYQIFY 3130 3140 3150 3160 3170 3180 KPQLSVCNPH SGKEYFRVPD SATFSICPGG EQPAMKSSSL PCWDLMPDIS QSVLDASLLQ 3190 3200 3210 3220 3230 3240 KQIMLGFSPA PGADSSQCWS LPAIVRPEFP RQSVAVPLGN FRENGFCTRA IVLTYQEHLG 3250 3260 3270 3280 3290 3300 VTYLTLSEDP SPRVIIHNRC PVKMLIKENI KDIPKFEVYC KKIPSECSIH HELYHQISSY 3310 3320 3330 3340 3350 3360 PDCKTKDLLP SLLLRVEPLD EVTTEWSDAI DINSQGTQVV FLTGFGYVYV DVVHQCGTVF 3370 3380 3390 3400 3410 3420 ITVAPEGKAG PILTNTNRAP EKIVTFKMFI TQLSLAVFDD LTHHKASAEL LRLTLDNIFL 3430 3440 3450 3460 3470 3480 CVAPGAGPLP GEEPVAALFE LYCVEICCGD LQLDNQLYNK SNFHFAVLVC QGEKAEPIQC 3490 3500 3510 3520 3530 3540 SKMQSLLISN KELEEYKEKC FIKLCITLNE GKSILCDINE FSFELKPARL YVEDTFVYYI 3550 3560 3570 3580 3590 3600 KTLFDTYLPN SRLAGHSTHL SGGKQVLPMQ VTQHARALVN PVKLRKLVIQ PVNLLVSIHA 3610 3620 3630 3640 3650 3660 SLKLYIASDH TPLSFSVFER GPIFTTARQL VHALAMHYAA GALFRAGWVV GSLDILGSPA 3670 3680 3690 3700 3710 3720 SLVRSIGNGV ADFFRLPYEG LTRGPGAFVS GVSRGTTSFV KHISKGTLTS ITNLATSLAR 3730 3740 3750 3760 3770 3780 NMDRLSLDEE HYNRQEEWRR QLPESLGEGL RQGLSRLGIS LLGAIAGIVD QPMQNFQKTS 3790 3800 3810 3820 3830 3840 EAQASAGHKA KGVISGVGKG IMGVFTKPIG GAAELVSQTG YGILHGAGLS QLPKQRHQPS 3850 3860 3870 3880 3890 3900 DLHADQAPNS HVKYVWKMLQ SLGRPEVHMA LDVVLVRGSG QEHEGCLLLT SEVLFVVSVS 3910 3920 3930 3940 3950 3960 EDTQQQAFPV TEIDCAQDSK QNNLLTVQLK QPRVACDVEV DGVRERLSEQ QYNRLVDYIT 3970 3980 3990 4000 4010 4020 KTSCHLAPSC SSMQIPCPVV AAEPPPSTVK TYHYLVDPHF AQVFLSKFTM VKNKALRKGF P

References

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[1]	"Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport." Kolehmainen J., Black G.C.M., Saarinen A., Chandler K., Clayton-Smith J., Traeskelin A.-L., Perveen R., Kivitie-Kallio S., Norio R., Warburg M., Fryns J.-P., de la Chapelle A., Lehesjoki A.-E. Am. J. Hum. Genet. 72:1359-1369(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5), TISSUE SPECIFICITY, VARIANT COH1 ARG-2193. Tissue: Lymphoblast.
[2]	"Analysis of the human VPS13 gene family." Velayos-Baeza A., Vettori A., Copley R.R., Dobson-Stone C., Monaco A.P. Genomics 84:536-549(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). Tissue: Lymphoblast.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 518-1522 (ISOFORM 6). Tissue: Brain.
[4]	"DNA sequence and analysis of human chromosome 8." Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T. , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S. Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2386-4022. Tissue: Brain.
[6]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Leukemic T-cell.
[7]	"Delineation of Cohen syndrome following a large-scale genotype-phenotype screen." Kolehmainen J., Wilkinson R., Lehesjoki A.-E., Chandler K., Kivitie-Kallio S., Clayton-Smith J., Traeskelin A.-L., Waris L., Saarinen A., Khan J., Gross-Tsur V., Traboulsi E.I., Warburg M., Fryns J.-P., Norio R., Black G.C.M., Manson F.D.C. Am. J. Hum. Genet. 75:122-127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT COH1 SER-2993.
[8]	"Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome." Hennies H.C., Rauch A., Seifert W., Schumi C., Moser E., Al-Taji E., Tariverdian G., Chrzanowska K.H., Krajewska-Walasek M., Rajab A., Giugliani R., Neumann T.E., Eckl K.M., Karbasiyan M., Reis A., Horn D. Am. J. Hum. Genet. 75:138-145(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS COH1 CYS-2341 AND ASP-2645.
[9]	"Cohen syndrome in the Ohio Amish." Falk M.J., Feiler H.S., Neilson D.E., Maxwell K., Lee J.V., Segall S.K., Robin N.H., Wilhelmsen K.C., Traeskelin A.-L., Kolehmainen J., Lehesjoki A.-E., Wiznitzer M., Warman M.L. Am. J. Med. Genet. A 128:23-28(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT COH1 THR-2820.
[10]	"Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome." Seifert W., Holder-Espinasse M., Spranger S., Hoeltzenbein M., Rossier E., Dollfus H., Lacombe D., Verloes A., Chrzanowska K.H., Maegawa G.H.B., Chitayat D., Kotzot D., Huhle D., Meinecke P., Albrecht B., Mathijssen I., Leheup B., Raile K., Hennies H.C., Horn D. J. Med. Genet. 43:E22-E22(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS COH1 1739-GLU--GLN-1744 DEL AND LEU-2773, VARIANTS THR-829; ILE-866; VAL-1994; CYS-2822 AND ARG-3142.
[11]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-3001.
[12]	"Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1." Seifert W., Holder-Espinasse M., Kuehnisch J., Kahrizi K., Tzschach A., Garshasbi M., Najmabadi H., Walter Kuss A., Kress W., Laureys G., Loeys B., Brilstra E., Mancini G.M.S., Dollfus H., Dahan K., Apse K., Hennies H.C., Horn D. Hum. Mutat. 30:E404-E420(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT COH1 LEU-1494 DEL, TISSUE SPECIFICITY.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY223814 mRNA. Translation: AAP41102.1. AY223815 mRNA. Translation: AAP41103.1. AY223816 mRNA. Translation: AAP41104.1. AY223817 mRNA. Translation: AAP41105.1. AY223818 mRNA. Translation: AAP41106.1. Sequence problems. AJ608772 mRNA. Translation: CAE75584.1. AJ608773 mRNA. Translation: CAE75585.1. AK091431 mRNA. Translation: BAC03664.1. Different initiation. AK000590 mRNA. Translation: BAA91275.1. Sequence problems. AC018442 Genomic DNA. No translation available. AC023933 Genomic DNA. No translation available. AC026827 Genomic DNA. No translation available. AC104986 Genomic DNA. No translation available. AC105195 Genomic DNA. No translation available. AC105328 Genomic DNA. No translation available. AC107909 Genomic DNA. No translation available. AP004289 Genomic DNA. No translation available. AP004290 Genomic DNA. No translation available. AB011104 mRNA. Translation: BAA25458.1.
IPI	IPI00376436. IPI00376437. IPI00376439. IPI00420061. IPI00941724. IPI00970801.
PIR	T00070.
RefSeq	NP_056058.2. NM_015243.2. NP_060360.3. NM_017890.4. NP_689777.3. NM_152564.4. NP_858047.2. NM_181661.2.
UniGene	Hs.191540.
3D structure databases
ProteinModelPortal	Q7Z7G8.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q7Z7G8. 2 interactions.
PTM databases
PhosphoSite	Q7Z7G8.
Polymorphism databases
DMDM	308153515.
Proteomic databases
PaxDb	Q7Z7G8.
PRIDE	Q7Z7G8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000355155; ENSP00000347281; ENSG00000132549. ENST00000357162; ENSP00000349685; ENSG00000132549. ENST00000358544; ENSP00000351346; ENSG00000132549. ENST00000395996; ENSP00000379318; ENSG00000132549. ENST00000441350; ENSP00000398472; ENSG00000132549. ENST00000496144; ENSP00000430900; ENSG00000132549.
GeneID	157680.
KEGG	hsa:157680.
UCSC	uc003yis.3. human. uc003yit.3. human. uc003yiu.1. human. uc003yiv.3. human. uc003yiw.3. human.
Organism-specific databases
CTD	157680.
GeneCards	GC08P100095.
HGNC	HGNC:2183. VPS13B.
HPA	HPA028146.
MIM	216550. phenotype. 607817. gene.
neXtProt	NX_Q7Z7G8.
Orphanet	193. Cohen syndrome. 217315. Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness.
PharmGKB	PA26699.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5043.
HOVERGEN	HBG094148.
InParanoid	Q7Z7G8.
OMA	VFISKFT.
PhylomeDB	Q7Z7G8.
Gene expression databases
ArrayExpress	Q7Z7G8.
Bgee	Q7Z7G8.
Genevestigator	Q7Z7G8.
GermOnline	ENSG00000132549. Homo sapiens.
Family and domain databases
InterPro	IPR015412. Autophagy-rel_C. IPR026847. VPS13. IPR026854. VPS13A_N. IPR009543. VPSAP_dom. [Graphical view]
PANTHER	PTHR16166. PTHR16166. 1 hit.
Pfam	PF09333. ATG_C. 1 hit. PF12624. Chorein_N. 1 hit. PF06650. DUF1162. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	VPS13B. human.
GenomeRNAi	157680.
NextBio	87507.
SOURCE	Search...

Entry information

Entry name

VP13B_HUMAN

Accession

Primary (citable) accession number: Q7Z7G8
Secondary accession number(s): C9JD30 , Q709C6, Q709C7, Q7Z7G4, Q7Z7G5, Q7Z7G6, Q7Z7G7, Q8NB77, Q9NWV1, Q9Y4E7

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 16, 2004
Last sequence update:	October 5, 2010
Last modified:	May 1, 2013
This is version 88 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.