Q96RL7 (VP13A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Vacuolar protein sorting-associated protein 13A

Alternative name(s):
Chorea-acanthocytosis protein
Chorein

Gene names

Name:	VPS13A
Synonyms:	CHAC, KIAA0986

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	3174 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane.
Tissue specificity	Widely expressed. Higher expression is found in brain, heart, skeletal muscle and kidney.
Involvement in disease	Choreoacanthocytosis (CHAC) [MIM:200150]: An autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self-mutilation. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.9
Sequence similarities	Belongs to the VPS13 family. Contains 10 TPR repeats.
Sequence caution	The sequence AAH20576.1 differs from that shown. Reason: Intron retention.

Ontologies

Keywords
Biological process	Protein transport Transport
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Epilepsy Neurodegeneration
Domain	Repeat TPR repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Golgi to endosome transport Non-traceable author statement Ref.1. Source: UniProtKB cell death Inferred from electronic annotation. Source: UniProtKB-KW locomotory behavior Inferred from electronic annotation. Source: Compara nervous system development Inferred from electronic annotation. Source: Compara protein localization Non-traceable author statement Ref.2. Source: UniProtKB protein transport Inferred from electronic annotation. Source: UniProtKB-KW social behavior Inferred from electronic annotation. Source: Compara
Cellular_component	intracellular Non-traceable author statement Ref.2. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
NCK1	P16333	3	EBI-1752583,EBI-389883

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96RL7-1)

Also known as: A;

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: Q96RL7-2)

Also known as: B;

The sequence of this isoform differs from the canonical sequence as follows:
     3064-3174: VMENGRFAKY...QEAREPSPSL → KIQFYREWIMTHSSSSDDDDDDDDDDESDLNH

Isoform 3 (identifier: Q96RL7-3)

Also known as: Chorein 2A;

The sequence of this isoform differs from the canonical sequence as follows:
     1040-1078: Missing.

Isoform 4 (identifier: Q96RL7-4)

Also known as: Chorein 1D;

The sequence of this isoform differs from the canonical sequence as follows:
     3064-3069: VMENGR → ASKSLI
     3070-3174: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 3174	3174	Vacuolar protein sorting-associated protein 13A		PRO_0000106277
Regions
	Repeat	212 – 245	34	TPR 1
	Repeat	373 – 406	34	TPR 2
	Repeat	537 – 575	39	TPR 3
	Repeat	1256 – 1289	34	TPR 4
	Repeat	1291 – 1320	30	TPR 5
	Repeat	2009 – 2041	33	TPR 6
	Repeat	2568 – 2601	34	TPR 7
	Repeat	2717 – 2751	35	TPR 8
	Repeat	2860 – 2898	39	TPR 9
	Repeat	3086 – 3119	34	TPR 10
Amino acid modifications
	Modified residue	2240	1	Phosphotyrosine By similarity
Natural variations
	Alternative sequence	1040 – 1078	39	Missing in isoform 3.		VSP_014904
	Alternative sequence	3064 – 3174	111	VMENG…PSPSL → KIQFYREWIMTHSSSSDDDD DDDDDDESDLNH in isoform 2.		VSP_006550
	Alternative sequence	3064 – 3069	6	VMENGR → ASKSLI in isoform 4.		VSP_014905
	Alternative sequence	3070 – 3174	105	Missing in isoform 4.		VSP_014906
	Natural variant	90	1	I → K in CHAC. Ref.1 Corresponds to variant rs28939379 [ dbSNP | Ensembl ].		VAR_038420
	Natural variant	161	1	R → H in a colorectal cancer sample; somatic mutation. Ref.10		VAR_036324
	Natural variant	565	1	F → L. Ref.9		VAR_058114
	Natural variant	898	1	V → A. Ref.9		VAR_058115
	Natural variant	1095	1	A → P in CHAC. Ref.9		VAR_058116
	Natural variant	1452	1	S → P in CHAC. Ref.1		VAR_012803
	Natural variant	1490	1	R → K. Ref.9		VAR_058117
	Natural variant	1587	1	Y → C. Ref.9		VAR_058118
	Natural variant	1973	1	V → I. Ref.9 Corresponds to variant rs41289969 [ dbSNP | Ensembl ].		VAR_058119
	Natural variant	2460	1	W → R in CHAC. Ref.9		VAR_058120
	Natural variant	2486	1	I → T. Ref.9		VAR_058121
	Natural variant	2721	1	Y → C in CHAC. Ref.1		VAR_038421
	Natural variant	3172	1	P → L. Ref.9		VAR_058122
Experimental info
	Sequence conflict	1198	1	K → R in AAK61861. Ref.1
	Sequence conflict	1850	1	L → R in AAH41852. Ref.6
	Sequence conflict	1880	1	I → F in AAH41852. Ref.6
	Sequence conflict	2281	1	G → E in BAB14337. Ref.7
	Sequence conflict	2354	1	K → R in AAH41852. Ref.6
	Sequence conflict	2413	1	T → R in BAB14337. Ref.7
	Sequence conflict	2567	1	K → E in BAB14337. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (A) [UniParc]. Last modified July 19, 2005. Version 2. Checksum: 58C8EC818E3350F4	FASTA	3,174	360,276
	10 20 30 40 50 60 MVFESVVVDV LNRFLGDYVV DLDTSQLSLG IWKGAVALKN LQIKENALSQ LDVPFKVKVG 70 80 90 100 110 120 HIGNLKLIIP WKNLYTQPVE AVLEEIYLLI VPSSRIKYDP LKEEKQLMEA KQQELKRIEE 130 140 150 160 170 180 AKQKVVDQEQ HLPEKQDTFA EKLVTQIIKN LQVKISSIHI RYEDDITNRD KPLSFGISLQ 190 200 210 220 230 240 NLSMQTTDQY WVPCLHDETE KLVRKLIRLD NLFAYWNVKS QMFYLSDYDN SLDDLKNGIV 250 260 270 280 290 300 NENIVPEGYD FVFRPISANA KLVMNRRSDF DFSAPKINLE IELHNIAIEF NKPQYFSIME 310 320 330 340 350 360 LLESVDMMAQ NLPYRKFKPD VPLHHHAREW WAYAIHGVLE VNVCPRLWMW SWKHIRKHRQ 370 380 390 400 410 420 KVKQYKELYK KKLTSKKPPG ELLVSLEELE KTLDVFNITI ARQTAEVEVK KAGYKIYKEG 430 440 450 460 470 480 VKDPEDNKGW FSWLWSWSEQ NTNEQQPDVQ PETLEEMLTP EEKALLYEAI GYSETAVDPT 490 500 510 520 530 540 LLKTFEALKF FVHLKSMSIV LRENHQKPEL VDIVIEEFST LIVQRPGAQA IKFETKIDSF 550 560 570 580 590 600 HITGLPDNSE KPRLLSSLDD AMSLFQITFE INPLDETVSQ RCIIEAEPLE IIYDARTVNS 610 620 630 640 650 660 IVEFFRPPKE VHLAQLTAAT LTKLEEFRSK TATGLLYIIE TQKVLDLKIN LKASYIIVPQ 670 680 690 700 710 720 DGIFSPTSNL LLLDLGHLKV TSKSRSELPD VKQGEANLKE IMDRAYDSFD IQLTSVQLLY 730 740 750 760 770 780 SRVGDNWREA RKLSVSTQHI LVPMHFNLEL SKAMVFMDVR MPKFKIYGKL PLISLRISDK 790 800 810 820 830 840 KLQGIMELIE SIPKPEPVTE VSAPVKSFQI QTSTSLGTSQ ISQKIIPLLE LPSVSEDDSE 850 860 870 880 890 900 EEFFDAPCSP LEEPLQFPTG VKSIRTRKLQ KQDCSVNMTT FKIRFEVPKV LIEFYHLVGD 910 920 930 940 950 960 CELSVVEILV LGLGAEIEIR TYDLKANAFL KEFCLKCPEY LDENKKPVYL VTTLDNTMED 970 980 990 1000 1010 1020 LLTLEYVKAE KNVPDLKSTY NNVLQLIKVN FSSLDIHLHT EALLNTINYL HNILPQSEEK 1030 1040 1050 1060 1070 1080 SAPVSTTETE DKGDVIKKLA LKLSTNEDII TLQILAELSC LQIFIQDQKC NISEIKIEGL 1090 1100 1110 1120 1130 1140 DSEMIMRPSE TEINAKLRNI IVLDSDITAI YKKAVYITGK EVFSFKMVSY MDATAGSAYT 1150 1160 1170 1180 1190 1200 DMNVVDIQVN LIVGCIEVVF VTKFLYSILA FIDNFQAAKQ ALAEATVQAA GMAATGVKEL 1210 1220 1230 1240 1250 1260 AQRSSRMALD INIKAPVVVI PQSPVSENVF VADFGLITMT NTFHMITESQ SSPPPVIDLI 1270 1280 1290 1300 1310 1320 TIKLSEMRLY RSRFINDAYQ EVLDLLLPLN LEVVVERNLC WEWYQEVPCF NVNAQLKPME 1330 1340 1350 1360 1370 1380 FILSQEDITT IFKTLHGNIW YEKDGSASPA VTKDQYSATS GVTTNASHHS GGATVVTAAV 1390 1400 1410 1420 1430 1440 VEVHSRALLV KTTLNISFKT DDLTMVLYSP GPKQASFTDV RDPSLKLAEF KLENIISTLK 1450 1460 1470 1480 1490 1500 MYTDGSTFSS FSLKNCILDD KRPHVKKATP RMIGLTVGFD KKDMMDIKYR KVRDGCVTDA 1510 1520 1530 1540 1550 1560 VFQEMYICAS VEFLQTVANV FLEAYTTGTA VETSVQTWTA KEEVPTQESV KWEINVIIKN 1570 1580 1590 1600 1610 1620 PEIVFVADMT KNDAPALVIT TQCEICYKGN LENSTMTAAI KDLQVRACPF LPVKRKGKIT 1630 1640 1650 1660 1670 1680 TVLQPCDLFY QTTQKGTDPQ VIDMSVKSLT LKVSPVIINT MITITSALYT TKETIPEETA 1690 1700 1710 1720 1730 1740 SSTAHLWEKK DTKTLKMWFL EESNETEKIA PTTELVPKGE MIKMNIDSIF IVLEAGIGHR 1750 1760 1770 1780 1790 1800 TVPMLLAKSR FSGEGKNWSS LINLHCQLEL EVHYYNEMFG VWEPLLEPLE IDQTEDFRPW 1810 1820 1830 1840 1850 1860 NLGIKMKKKA KMAIVESDPE EENYKVPEYK TVISFHSKDQ LNITLSKCGL VMLNNLVKAF 1870 1880 1890 1900 1910 1920 TEAATGSSAD FVKDLAPFMI LNSLGLTISV SPSDSFSVLN IPMAKSYVLK NGESLSMDYI 1930 1940 1950 1960 1970 1980 RTKDNDHFNA MTSLSSKLFF ILLTPVNHST ADKIPLTKVG RRLYTVRHRE SGVERSIVCQ 1990 2000 2010 2020 2030 2040 IDTVEGSKKV TIRSPVQIRN HFSVPLSVYE GDTLLGTASP ENEFNIPLGS YRSFIFLKPE 2050 2060 2070 2080 2090 2100 DENYQMCEGI DFEEIIKNDG ALLKKKCRSK NPSKESFLIN IVPEKDNLTS LSVYSEDGWD 2110 2120 2130 2140 2150 2160 LPYIMHLWPP ILLRNLLPYK IAYYIEGIEN SVFTLSEGHS AQICTAQLGK ARLHLKLLDY 2170 2180 2190 2200 2210 2220 LNHDWKSEYH IKPNQQDISF VSFTCVTEME KTDLDIAVHM TYNTGQTVVA FHSPYWMVNK 2230 2240 2250 2260 2270 2280 TGRMLQYKAD GIHRKHPPNY KKPVLFSFQP NHFFNNNKVQ LMVTDSELSN QFSIDTVGSH 2290 2300 2310 2320 2330 2340 GAVKCKGLKM DYQVGVTIDL SSFNITRIVT FTPFYMIKNK SKYHISVAEE GNDKWLSLDL 2350 2360 2370 2380 2390 2400 EQCIPFWPEY ASSKLLIQVE RSEDPPKRIY FNKQENCILL RLDNELGGII AEVNLAEHST 2410 2420 2430 2440 2450 2460 VITFLDYHDG AATFLLINHT KNELVQYNQS SLSEIEDSLP PGKAVFYTWA DPVGSRRLKW 2470 2480 2490 2500 2510 2520 RCRKSHGEVT QKDDMMMPID LGEKTIYLVS FFEGLQRIIL FTEDPRVFKV TYESEKAELA 2530 2540 2550 2560 2570 2580 EQEIAVALQD VGISLVNNYT KQEVAYIGIT SSDVVWETKP KKKARWKPMS VKHTEKLERE 2590 2600 2610 2620 2630 2640 FKEYTESSPS EDKVIQLDTN VPVRLTPTGH NMKILQPHVI ALRRNYLPAL KVEYNTSAHQ 2650 2660 2670 2680 2690 2700 SSFRIQIYRI QIQNQIHGAV FPFVFYPVKP PKSVTMDSAP KPFTDVSIVM RSAGHSQISR 2710 2720 2730 2740 2750 2760 IKYFKVLIQE MDLRLDLGFI YALTDLMTEA EVTENTEVEL FHKDIEAFKE EYKTASLVDQ 2770 2780 2790 2800 2810 2820 SQVSLYEYFH ISPIKLHLSV SLSSGREEAK DSKQNGGLIP VHSLNLLLKS IGATLTDVQD 2830 2840 2850 2860 2870 2880 VVFKLAFFEL NYQFHTTSDL QSEVIRHYSK QAIKQMYVLI LGLDVLGNPF GLIREFSEGV 2890 2900 2910 2920 2930 2940 EAFFYEPYQG AIQGPEEFVE GMALGLKALV GGAVGGLAGA ASKITGAMAK GVAAMTMDED 2950 2960 2970 2980 2990 3000 YQQKRREAMN KQPAGFREGI TRGGKGLVSG FVSGITGIVT KPIKGAQKGG AAGFFKGVGK 3010 3020 3030 3040 3050 3060 GLVGAVARPT GGIIDMASST FQGIKRATET SEVESLRPPR FFNEDGVIRP YRLRDGTGNQ 3070 3080 3090 3100 3110 3120 MLQVMENGRF AKYKYFTHVM INKTDMLMIT RRGVLFVTKG TFGQLTCEWQ YSFDEFTKEP 3130 3140 3150 3160 3170 FIVHGRRLRI EAKERVKSVF HAREFGKIIN FKTPEDARWI LTKLQEAREP SPSL
	Isoform 2 (B) [UniParc]. Checksum: 525800E2A69DDBF5	FASTA	3,095	350,903
	10 20 30 40 50 60 MVFESVVVDV LNRFLGDYVV DLDTSQLSLG IWKGAVALKN LQIKENALSQ LDVPFKVKVG 70 80 90 100 110 120 HIGNLKLIIP WKNLYTQPVE AVLEEIYLLI VPSSRIKYDP LKEEKQLMEA KQQELKRIEE 130 140 150 160 170 180 AKQKVVDQEQ HLPEKQDTFA EKLVTQIIKN LQVKISSIHI RYEDDITNRD KPLSFGISLQ 190 200 210 220 230 240 NLSMQTTDQY WVPCLHDETE KLVRKLIRLD NLFAYWNVKS QMFYLSDYDN SLDDLKNGIV 250 260 270 280 290 300 NENIVPEGYD FVFRPISANA KLVMNRRSDF DFSAPKINLE IELHNIAIEF NKPQYFSIME 310 320 330 340 350 360 LLESVDMMAQ NLPYRKFKPD VPLHHHAREW WAYAIHGVLE VNVCPRLWMW SWKHIRKHRQ 370 380 390 400 410 420 KVKQYKELYK KKLTSKKPPG ELLVSLEELE KTLDVFNITI ARQTAEVEVK KAGYKIYKEG 430 440 450 460 470 480 VKDPEDNKGW FSWLWSWSEQ NTNEQQPDVQ PETLEEMLTP EEKALLYEAI GYSETAVDPT 490 500 510 520 530 540 LLKTFEALKF FVHLKSMSIV LRENHQKPEL VDIVIEEFST LIVQRPGAQA IKFETKIDSF 550 560 570 580 590 600 HITGLPDNSE KPRLLSSLDD AMSLFQITFE INPLDETVSQ RCIIEAEPLE IIYDARTVNS 610 620 630 640 650 660 IVEFFRPPKE VHLAQLTAAT LTKLEEFRSK TATGLLYIIE TQKVLDLKIN LKASYIIVPQ 670 680 690 700 710 720 DGIFSPTSNL LLLDLGHLKV TSKSRSELPD VKQGEANLKE IMDRAYDSFD IQLTSVQLLY 730 740 750 760 770 780 SRVGDNWREA RKLSVSTQHI LVPMHFNLEL SKAMVFMDVR MPKFKIYGKL PLISLRISDK 790 800 810 820 830 840 KLQGIMELIE SIPKPEPVTE VSAPVKSFQI QTSTSLGTSQ ISQKIIPLLE LPSVSEDDSE 850 860 870 880 890 900 EEFFDAPCSP LEEPLQFPTG VKSIRTRKLQ KQDCSVNMTT FKIRFEVPKV LIEFYHLVGD 910 920 930 940 950 960 CELSVVEILV LGLGAEIEIR TYDLKANAFL KEFCLKCPEY LDENKKPVYL VTTLDNTMED 970 980 990 1000 1010 1020 LLTLEYVKAE KNVPDLKSTY NNVLQLIKVN FSSLDIHLHT EALLNTINYL HNILPQSEEK 1030 1040 1050 1060 1070 1080 SAPVSTTETE DKGDVIKKLA LKLSTNEDII TLQILAELSC LQIFIQDQKC NISEIKIEGL 1090 1100 1110 1120 1130 1140 DSEMIMRPSE TEINAKLRNI IVLDSDITAI YKKAVYITGK EVFSFKMVSY MDATAGSAYT 1150 1160 1170 1180 1190 1200 DMNVVDIQVN LIVGCIEVVF VTKFLYSILA FIDNFQAAKQ ALAEATVQAA GMAATGVKEL 1210 1220 1230 1240 1250 1260 AQRSSRMALD INIKAPVVVI PQSPVSENVF VADFGLITMT NTFHMITESQ SSPPPVIDLI 1270 1280 1290 1300 1310 1320 TIKLSEMRLY RSRFINDAYQ EVLDLLLPLN LEVVVERNLC WEWYQEVPCF NVNAQLKPME 1330 1340 1350 1360 1370 1380 FILSQEDITT IFKTLHGNIW YEKDGSASPA VTKDQYSATS GVTTNASHHS GGATVVTAAV 1390 1400 1410 1420 1430 1440 VEVHSRALLV KTTLNISFKT DDLTMVLYSP GPKQASFTDV RDPSLKLAEF KLENIISTLK 1450 1460 1470 1480 1490 1500 MYTDGSTFSS FSLKNCILDD KRPHVKKATP RMIGLTVGFD KKDMMDIKYR KVRDGCVTDA 1510 1520 1530 1540 1550 1560 VFQEMYICAS VEFLQTVANV FLEAYTTGTA VETSVQTWTA KEEVPTQESV KWEINVIIKN 1570 1580 1590 1600 1610 1620 PEIVFVADMT KNDAPALVIT TQCEICYKGN LENSTMTAAI KDLQVRACPF LPVKRKGKIT 1630 1640 1650 1660 1670 1680 TVLQPCDLFY QTTQKGTDPQ VIDMSVKSLT LKVSPVIINT MITITSALYT TKETIPEETA 1690 1700 1710 1720 1730 1740 SSTAHLWEKK DTKTLKMWFL EESNETEKIA PTTELVPKGE MIKMNIDSIF IVLEAGIGHR 1750 1760 1770 1780 1790 1800 TVPMLLAKSR FSGEGKNWSS LINLHCQLEL EVHYYNEMFG VWEPLLEPLE IDQTEDFRPW 1810 1820 1830 1840 1850 1860 NLGIKMKKKA KMAIVESDPE EENYKVPEYK TVISFHSKDQ LNITLSKCGL VMLNNLVKAF 1870 1880 1890 1900 1910 1920 TEAATGSSAD FVKDLAPFMI LNSLGLTISV SPSDSFSVLN IPMAKSYVLK NGESLSMDYI 1930 1940 1950 1960 1970 1980 RTKDNDHFNA MTSLSSKLFF ILLTPVNHST ADKIPLTKVG RRLYTVRHRE SGVERSIVCQ 1990 2000 2010 2020 2030 2040 IDTVEGSKKV TIRSPVQIRN HFSVPLSVYE GDTLLGTASP ENEFNIPLGS YRSFIFLKPE 2050 2060 2070 2080 2090 2100 DENYQMCEGI DFEEIIKNDG ALLKKKCRSK NPSKESFLIN IVPEKDNLTS LSVYSEDGWD 2110 2120 2130 2140 2150 2160 LPYIMHLWPP ILLRNLLPYK IAYYIEGIEN SVFTLSEGHS AQICTAQLGK ARLHLKLLDY 2170 2180 2190 2200 2210 2220 LNHDWKSEYH IKPNQQDISF VSFTCVTEME KTDLDIAVHM TYNTGQTVVA FHSPYWMVNK 2230 2240 2250 2260 2270 2280 TGRMLQYKAD GIHRKHPPNY KKPVLFSFQP NHFFNNNKVQ LMVTDSELSN QFSIDTVGSH 2290 2300 2310 2320 2330 2340 GAVKCKGLKM DYQVGVTIDL SSFNITRIVT FTPFYMIKNK SKYHISVAEE GNDKWLSLDL 2350 2360 2370 2380 2390 2400 EQCIPFWPEY ASSKLLIQVE RSEDPPKRIY FNKQENCILL RLDNELGGII AEVNLAEHST 2410 2420 2430 2440 2450 2460 VITFLDYHDG AATFLLINHT KNELVQYNQS SLSEIEDSLP PGKAVFYTWA DPVGSRRLKW 2470 2480 2490 2500 2510 2520 RCRKSHGEVT QKDDMMMPID LGEKTIYLVS FFEGLQRIIL FTEDPRVFKV TYESEKAELA 2530 2540 2550 2560 2570 2580 EQEIAVALQD VGISLVNNYT KQEVAYIGIT SSDVVWETKP KKKARWKPMS VKHTEKLERE 2590 2600 2610 2620 2630 2640 FKEYTESSPS EDKVIQLDTN VPVRLTPTGH NMKILQPHVI ALRRNYLPAL KVEYNTSAHQ 2650 2660 2670 2680 2690 2700 SSFRIQIYRI QIQNQIHGAV FPFVFYPVKP PKSVTMDSAP KPFTDVSIVM RSAGHSQISR 2710 2720 2730 2740 2750 2760 IKYFKVLIQE MDLRLDLGFI YALTDLMTEA EVTENTEVEL FHKDIEAFKE EYKTASLVDQ 2770 2780 2790 2800 2810 2820 SQVSLYEYFH ISPIKLHLSV SLSSGREEAK DSKQNGGLIP VHSLNLLLKS IGATLTDVQD 2830 2840 2850 2860 2870 2880 VVFKLAFFEL NYQFHTTSDL QSEVIRHYSK QAIKQMYVLI LGLDVLGNPF GLIREFSEGV 2890 2900 2910 2920 2930 2940 EAFFYEPYQG AIQGPEEFVE GMALGLKALV GGAVGGLAGA ASKITGAMAK GVAAMTMDED 2950 2960 2970 2980 2990 3000 YQQKRREAMN KQPAGFREGI TRGGKGLVSG FVSGITGIVT KPIKGAQKGG AAGFFKGVGK 3010 3020 3030 3040 3050 3060 GLVGAVARPT GGIIDMASST FQGIKRATET SEVESLRPPR FFNEDGVIRP YRLRDGTGNQ 3070 3080 3090 MLQKIQFYRE WIMTHSSSSD DDDDDDDDDE SDLNH
	Isoform 3 (Chorein 2A) [UniParc]. Checksum: 2C854C334B5C4B73	FASTA	3,135	355,861
	10 20 30 40 50 60 MVFESVVVDV LNRFLGDYVV DLDTSQLSLG IWKGAVALKN LQIKENALSQ LDVPFKVKVG 70 80 90 100 110 120 HIGNLKLIIP WKNLYTQPVE AVLEEIYLLI VPSSRIKYDP LKEEKQLMEA KQQELKRIEE 130 140 150 160 170 180 AKQKVVDQEQ HLPEKQDTFA EKLVTQIIKN LQVKISSIHI RYEDDITNRD KPLSFGISLQ 190 200 210 220 230 240 NLSMQTTDQY WVPCLHDETE KLVRKLIRLD NLFAYWNVKS QMFYLSDYDN SLDDLKNGIV 250 260 270 280 290 300 NENIVPEGYD FVFRPISANA KLVMNRRSDF DFSAPKINLE IELHNIAIEF NKPQYFSIME 310 320 330 340 350 360 LLESVDMMAQ NLPYRKFKPD VPLHHHAREW WAYAIHGVLE VNVCPRLWMW SWKHIRKHRQ 370 380 390 400 410 420 KVKQYKELYK KKLTSKKPPG ELLVSLEELE KTLDVFNITI ARQTAEVEVK KAGYKIYKEG 430 440 450 460 470 480 VKDPEDNKGW FSWLWSWSEQ NTNEQQPDVQ PETLEEMLTP EEKALLYEAI GYSETAVDPT 490 500 510 520 530 540 LLKTFEALKF FVHLKSMSIV LRENHQKPEL VDIVIEEFST LIVQRPGAQA IKFETKIDSF 550 560 570 580 590 600 HITGLPDNSE KPRLLSSLDD AMSLFQITFE INPLDETVSQ RCIIEAEPLE IIYDARTVNS 610 620 630 640 650 660 IVEFFRPPKE VHLAQLTAAT LTKLEEFRSK TATGLLYIIE TQKVLDLKIN LKASYIIVPQ 670 680 690 700 710 720 DGIFSPTSNL LLLDLGHLKV TSKSRSELPD VKQGEANLKE IMDRAYDSFD IQLTSVQLLY 730 740 750 760 770 780 SRVGDNWREA RKLSVSTQHI LVPMHFNLEL SKAMVFMDVR MPKFKIYGKL PLISLRISDK 790 800 810 820 830 840 KLQGIMELIE SIPKPEPVTE VSAPVKSFQI QTSTSLGTSQ ISQKIIPLLE LPSVSEDDSE 850 860 870 880 890 900 EEFFDAPCSP LEEPLQFPTG VKSIRTRKLQ KQDCSVNMTT FKIRFEVPKV LIEFYHLVGD 910 920 930 940 950 960 CELSVVEILV LGLGAEIEIR TYDLKANAFL KEFCLKCPEY LDENKKPVYL VTTLDNTMED 970 980 990 1000 1010 1020 LLTLEYVKAE KNVPDLKSTY NNVLQLIKVN FSSLDIHLHT EALLNTINYL HNILPQSEEK 1030 1040 1050 1060 1070 1080 SAPVSTTETE DKGDVIKKLG LDSEMIMRPS ETEINAKLRN IIVLDSDITA IYKKAVYITG 1090 1100 1110 1120 1130 1140 KEVFSFKMVS YMDATAGSAY TDMNVVDIQV NLIVGCIEVV FVTKFLYSIL AFIDNFQAAK 1150 1160 1170 1180 1190 1200 QALAEATVQA AGMAATGVKE LAQRSSRMAL DINIKAPVVV IPQSPVSENV FVADFGLITM 1210 1220 1230 1240 1250 1260 TNTFHMITES QSSPPPVIDL ITIKLSEMRL YRSRFINDAY QEVLDLLLPL NLEVVVERNL 1270 1280 1290 1300 1310 1320 CWEWYQEVPC FNVNAQLKPM EFILSQEDIT TIFKTLHGNI WYEKDGSASP AVTKDQYSAT 1330 1340 1350 1360 1370 1380 SGVTTNASHH SGGATVVTAA VVEVHSRALL VKTTLNISFK TDDLTMVLYS PGPKQASFTD 1390 1400 1410 1420 1430 1440 VRDPSLKLAE FKLENIISTL KMYTDGSTFS SFSLKNCILD DKRPHVKKAT PRMIGLTVGF 1450 1460 1470 1480 1490 1500 DKKDMMDIKY RKVRDGCVTD AVFQEMYICA SVEFLQTVAN VFLEAYTTGT AVETSVQTWT 1510 1520 1530 1540 1550 1560 AKEEVPTQES VKWEINVIIK NPEIVFVADM TKNDAPALVI TTQCEICYKG NLENSTMTAA 1570 1580 1590 1600 1610 1620 IKDLQVRACP FLPVKRKGKI TTVLQPCDLF YQTTQKGTDP QVIDMSVKSL TLKVSPVIIN 1630 1640 1650 1660 1670 1680 TMITITSALY TTKETIPEET ASSTAHLWEK KDTKTLKMWF LEESNETEKI APTTELVPKG 1690 1700 1710 1720 1730 1740 EMIKMNIDSI FIVLEAGIGH RTVPMLLAKS RFSGEGKNWS SLINLHCQLE LEVHYYNEMF 1750 1760 1770 1780 1790 1800 GVWEPLLEPL EIDQTEDFRP WNLGIKMKKK AKMAIVESDP EEENYKVPEY KTVISFHSKD 1810 1820 1830 1840 1850 1860 QLNITLSKCG LVMLNNLVKA FTEAATGSSA DFVKDLAPFM ILNSLGLTIS VSPSDSFSVL 1870 1880 1890 1900 1910 1920 NIPMAKSYVL KNGESLSMDY IRTKDNDHFN AMTSLSSKLF FILLTPVNHS TADKIPLTKV 1930 1940 1950 1960 1970 1980 GRRLYTVRHR ESGVERSIVC QIDTVEGSKK VTIRSPVQIR NHFSVPLSVY EGDTLLGTAS 1990 2000 2010 2020 2030 2040 PENEFNIPLG SYRSFIFLKP EDENYQMCEG IDFEEIIKND GALLKKKCRS KNPSKESFLI 2050 2060 2070 2080 2090 2100 NIVPEKDNLT SLSVYSEDGW DLPYIMHLWP PILLRNLLPY KIAYYIEGIE NSVFTLSEGH 2110 2120 2130 2140 2150 2160 SAQICTAQLG KARLHLKLLD YLNHDWKSEY HIKPNQQDIS FVSFTCVTEM EKTDLDIAVH 2170 2180 2190 2200 2210 2220 MTYNTGQTVV AFHSPYWMVN KTGRMLQYKA DGIHRKHPPN YKKPVLFSFQ PNHFFNNNKV 2230 2240 2250 2260 2270 2280 QLMVTDSELS NQFSIDTVGS HGAVKCKGLK MDYQVGVTID LSSFNITRIV TFTPFYMIKN 2290 2300 2310 2320 2330 2340 KSKYHISVAE EGNDKWLSLD LEQCIPFWPE YASSKLLIQV ERSEDPPKRI YFNKQENCIL 2350 2360 2370 2380 2390 2400 LRLDNELGGI IAEVNLAEHS TVITFLDYHD GAATFLLINH TKNELVQYNQ SSLSEIEDSL 2410 2420 2430 2440 2450 2460 PPGKAVFYTW ADPVGSRRLK WRCRKSHGEV TQKDDMMMPI DLGEKTIYLV SFFEGLQRII 2470 2480 2490 2500 2510 2520 LFTEDPRVFK VTYESEKAEL AEQEIAVALQ DVGISLVNNY TKQEVAYIGI TSSDVVWETK 2530 2540 2550 2560 2570 2580 PKKKARWKPM SVKHTEKLER EFKEYTESSP SEDKVIQLDT NVPVRLTPTG HNMKILQPHV 2590 2600 2610 2620 2630 2640 IALRRNYLPA LKVEYNTSAH QSSFRIQIYR IQIQNQIHGA VFPFVFYPVK PPKSVTMDSA 2650 2660 2670 2680 2690 2700 PKPFTDVSIV MRSAGHSQIS RIKYFKVLIQ EMDLRLDLGF IYALTDLMTE AEVTENTEVE 2710 2720 2730 2740 2750 2760 LFHKDIEAFK EEYKTASLVD QSQVSLYEYF HISPIKLHLS VSLSSGREEA KDSKQNGGLI 2770 2780 2790 2800 2810 2820 PVHSLNLLLK SIGATLTDVQ DVVFKLAFFE LNYQFHTTSD LQSEVIRHYS KQAIKQMYVL 2830 2840 2850 2860 2870 2880 ILGLDVLGNP FGLIREFSEG VEAFFYEPYQ GAIQGPEEFV EGMALGLKAL VGGAVGGLAG 2890 2900 2910 2920 2930 2940 AASKITGAMA KGVAAMTMDE DYQQKRREAM NKQPAGFREG ITRGGKGLVS GFVSGITGIV 2950 2960 2970 2980 2990 3000 TKPIKGAQKG GAAGFFKGVG KGLVGAVARP TGGIIDMASS TFQGIKRATE TSEVESLRPP 3010 3020 3030 3040 3050 3060 RFFNEDGVIR PYRLRDGTGN QMLQVMENGR FAKYKYFTHV MINKTDMLMI TRRGVLFVTK 3070 3080 3090 3100 3110 3120 GTFGQLTCEW QYSFDEFTKE PFIVHGRRLR IEAKERVKSV FHAREFGKII NFKTPEDARW 3130 ILTKLQEARE PSPSL
	Isoform 4 (Chorein 1D) [UniParc]. Checksum: 688A6FAAEA6B5CEE	FASTA	3,069	347,673
	10 20 30 40 50 60 MVFESVVVDV LNRFLGDYVV DLDTSQLSLG IWKGAVALKN LQIKENALSQ LDVPFKVKVG 70 80 90 100 110 120 HIGNLKLIIP WKNLYTQPVE AVLEEIYLLI VPSSRIKYDP LKEEKQLMEA KQQELKRIEE 130 140 150 160 170 180 AKQKVVDQEQ HLPEKQDTFA EKLVTQIIKN LQVKISSIHI RYEDDITNRD KPLSFGISLQ 190 200 210 220 230 240 NLSMQTTDQY WVPCLHDETE KLVRKLIRLD NLFAYWNVKS QMFYLSDYDN SLDDLKNGIV 250 260 270 280 290 300 NENIVPEGYD FVFRPISANA KLVMNRRSDF DFSAPKINLE IELHNIAIEF NKPQYFSIME 310 320 330 340 350 360 LLESVDMMAQ NLPYRKFKPD VPLHHHAREW WAYAIHGVLE VNVCPRLWMW SWKHIRKHRQ 370 380 390 400 410 420 KVKQYKELYK KKLTSKKPPG ELLVSLEELE KTLDVFNITI ARQTAEVEVK KAGYKIYKEG 430 440 450 460 470 480 VKDPEDNKGW FSWLWSWSEQ NTNEQQPDVQ PETLEEMLTP EEKALLYEAI GYSETAVDPT 490 500 510 520 530 540 LLKTFEALKF FVHLKSMSIV LRENHQKPEL VDIVIEEFST LIVQRPGAQA IKFETKIDSF 550 560 570 580 590 600 HITGLPDNSE KPRLLSSLDD AMSLFQITFE INPLDETVSQ RCIIEAEPLE IIYDARTVNS 610 620 630 640 650 660 IVEFFRPPKE VHLAQLTAAT LTKLEEFRSK TATGLLYIIE TQKVLDLKIN LKASYIIVPQ 670 680 690 700 710 720 DGIFSPTSNL LLLDLGHLKV TSKSRSELPD VKQGEANLKE IMDRAYDSFD IQLTSVQLLY 730 740 750 760 770 780 SRVGDNWREA RKLSVSTQHI LVPMHFNLEL SKAMVFMDVR MPKFKIYGKL PLISLRISDK 790 800 810 820 830 840 KLQGIMELIE SIPKPEPVTE VSAPVKSFQI QTSTSLGTSQ ISQKIIPLLE LPSVSEDDSE 850 860 870 880 890 900 EEFFDAPCSP LEEPLQFPTG VKSIRTRKLQ KQDCSVNMTT FKIRFEVPKV LIEFYHLVGD 910 920 930 940 950 960 CELSVVEILV LGLGAEIEIR TYDLKANAFL KEFCLKCPEY LDENKKPVYL VTTLDNTMED 970 980 990 1000 1010 1020 LLTLEYVKAE KNVPDLKSTY NNVLQLIKVN FSSLDIHLHT EALLNTINYL HNILPQSEEK 1030 1040 1050 1060 1070 1080 SAPVSTTETE DKGDVIKKLA LKLSTNEDII TLQILAELSC LQIFIQDQKC NISEIKIEGL 1090 1100 1110 1120 1130 1140 DSEMIMRPSE TEINAKLRNI IVLDSDITAI YKKAVYITGK EVFSFKMVSY MDATAGSAYT 1150 1160 1170 1180 1190 1200 DMNVVDIQVN LIVGCIEVVF VTKFLYSILA FIDNFQAAKQ ALAEATVQAA GMAATGVKEL 1210 1220 1230 1240 1250 1260 AQRSSRMALD INIKAPVVVI PQSPVSENVF VADFGLITMT NTFHMITESQ SSPPPVIDLI 1270 1280 1290 1300 1310 1320 TIKLSEMRLY RSRFINDAYQ EVLDLLLPLN LEVVVERNLC WEWYQEVPCF NVNAQLKPME 1330 1340 1350 1360 1370 1380 FILSQEDITT IFKTLHGNIW YEKDGSASPA VTKDQYSATS GVTTNASHHS GGATVVTAAV 1390 1400 1410 1420 1430 1440 VEVHSRALLV KTTLNISFKT DDLTMVLYSP GPKQASFTDV RDPSLKLAEF KLENIISTLK 1450 1460 1470 1480 1490 1500 MYTDGSTFSS FSLKNCILDD KRPHVKKATP RMIGLTVGFD KKDMMDIKYR KVRDGCVTDA 1510 1520 1530 1540 1550 1560 VFQEMYICAS VEFLQTVANV FLEAYTTGTA VETSVQTWTA KEEVPTQESV KWEINVIIKN 1570 1580 1590 1600 1610 1620 PEIVFVADMT KNDAPALVIT TQCEICYKGN LENSTMTAAI KDLQVRACPF LPVKRKGKIT 1630 1640 1650 1660 1670 1680 TVLQPCDLFY QTTQKGTDPQ VIDMSVKSLT LKVSPVIINT MITITSALYT TKETIPEETA 1690 1700 1710 1720 1730 1740 SSTAHLWEKK DTKTLKMWFL EESNETEKIA PTTELVPKGE MIKMNIDSIF IVLEAGIGHR 1750 1760 1770 1780 1790 1800 TVPMLLAKSR FSGEGKNWSS LINLHCQLEL EVHYYNEMFG VWEPLLEPLE IDQTEDFRPW 1810 1820 1830 1840 1850 1860 NLGIKMKKKA KMAIVESDPE EENYKVPEYK TVISFHSKDQ LNITLSKCGL VMLNNLVKAF 1870 1880 1890 1900 1910 1920 TEAATGSSAD FVKDLAPFMI LNSLGLTISV SPSDSFSVLN IPMAKSYVLK NGESLSMDYI 1930 1940 1950 1960 1970 1980 RTKDNDHFNA MTSLSSKLFF ILLTPVNHST ADKIPLTKVG RRLYTVRHRE SGVERSIVCQ 1990 2000 2010 2020 2030 2040 IDTVEGSKKV TIRSPVQIRN HFSVPLSVYE GDTLLGTASP ENEFNIPLGS YRSFIFLKPE 2050 2060 2070 2080 2090 2100 DENYQMCEGI DFEEIIKNDG ALLKKKCRSK NPSKESFLIN IVPEKDNLTS LSVYSEDGWD 2110 2120 2130 2140 2150 2160 LPYIMHLWPP ILLRNLLPYK IAYYIEGIEN SVFTLSEGHS AQICTAQLGK ARLHLKLLDY 2170 2180 2190 2200 2210 2220 LNHDWKSEYH IKPNQQDISF VSFTCVTEME KTDLDIAVHM TYNTGQTVVA FHSPYWMVNK 2230 2240 2250 2260 2270 2280 TGRMLQYKAD GIHRKHPPNY KKPVLFSFQP NHFFNNNKVQ LMVTDSELSN QFSIDTVGSH 2290 2300 2310 2320 2330 2340 GAVKCKGLKM DYQVGVTIDL SSFNITRIVT FTPFYMIKNK SKYHISVAEE GNDKWLSLDL 2350 2360 2370 2380 2390 2400 EQCIPFWPEY ASSKLLIQVE RSEDPPKRIY FNKQENCILL RLDNELGGII AEVNLAEHST 2410 2420 2430 2440 2450 2460 VITFLDYHDG AATFLLINHT KNELVQYNQS SLSEIEDSLP PGKAVFYTWA DPVGSRRLKW 2470 2480 2490 2500 2510 2520 RCRKSHGEVT QKDDMMMPID LGEKTIYLVS FFEGLQRIIL FTEDPRVFKV TYESEKAELA 2530 2540 2550 2560 2570 2580 EQEIAVALQD VGISLVNNYT KQEVAYIGIT SSDVVWETKP KKKARWKPMS VKHTEKLERE 2590 2600 2610 2620 2630 2640 FKEYTESSPS EDKVIQLDTN VPVRLTPTGH NMKILQPHVI ALRRNYLPAL KVEYNTSAHQ 2650 2660 2670 2680 2690 2700 SSFRIQIYRI QIQNQIHGAV FPFVFYPVKP PKSVTMDSAP KPFTDVSIVM RSAGHSQISR 2710 2720 2730 2740 2750 2760 IKYFKVLIQE MDLRLDLGFI YALTDLMTEA EVTENTEVEL FHKDIEAFKE EYKTASLVDQ 2770 2780 2790 2800 2810 2820 SQVSLYEYFH ISPIKLHLSV SLSSGREEAK DSKQNGGLIP VHSLNLLLKS IGATLTDVQD 2830 2840 2850 2860 2870 2880 VVFKLAFFEL NYQFHTTSDL QSEVIRHYSK QAIKQMYVLI LGLDVLGNPF GLIREFSEGV 2890 2900 2910 2920 2930 2940 EAFFYEPYQG AIQGPEEFVE GMALGLKALV GGAVGGLAGA ASKITGAMAK GVAAMTMDED 2950 2960 2970 2980 2990 3000 YQQKRREAMN KQPAGFREGI TRGGKGLVSG FVSGITGIVT KPIKGAQKGG AAGFFKGVGK 3010 3020 3030 3040 3050 3060 GLVGAVARPT GGIIDMASST FQGIKRATET SEVESLRPPR FFNEDGVIRP YRLRDGTGNQ MLQASKSLI

References

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[1]	"A conserved sorting-associated protein is mutant in chorea-acanthocytosis." Rampoldi L., Dobson-Stone C., Rubio J., Danek A., Chalmers R., Wood N.W., Verellen C., Ferrer X., Malandrini A., Fabrizi G.M., Brown R., Vance J., Pericak-Vance M., Rudolf G., Carre S., Alonso E., Manfredi M., Nemeth A.H., Monaco A.P. Nat. Genet. 28:119-120(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING, VARIANTS CHAC LYS-90; PRO-1452 AND CYS-2721.
[2]	"The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis." Ueno S., Maruki Y., Nakamura M., Tomemori Y., Kamae K., Tanabe H., Yamashita Y., Matsuda S., Kaneko S., Sano A. Nat. Genet. 28:121-122(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[3]	"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 3 AND 4). Tissue: Lymphoblast.
[4]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1638-3174 (ISOFORM 2). Tissue: Brain.
[6]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1749-2127, NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1850-3174 (ISOFORM 2). Tissue: Placenta and Testis.
[7]	"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] OF 2200-3174. Tissue: Teratocarcinoma.
[8]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[9]	"Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis." Dobson-Stone C., Danek A., Rampoldi L., Hardie R.J., Chalmers R.M., Wood N.W., Bohlega S., Dotti M.T., Federico A., Shizuka M., Tanaka M., Watanabe M., Ikeda Y., Brin M., Goldfarb L.G., Karp B.I., Mohiddin S., Fananapazir L. , Storch A., Fryer A.E., Maddison P., Sibon I., Trevisol-Bittencourt P.C., Singer C., Caballero I.R., Aasly J.O., Schmierer K., Dengler R., Hiersemenzel L.-P., Zeviani M., Meiner V., Lossos A., Johnson S., Mercado F.C., Sorrentino G., Dupre N., Rouleau G.A., Volkmann J., Arpa J., Lees A., Geraud G., Chouinard S., Nemeth A., Monaco A.P. Eur. J. Hum. Genet. 10:773-781(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CHAC PRO-1095 AND ARG-2460, VARIANTS LEU-565; ALA-898; LYS-1490; CYS-1587; ILE-1973; THR-2486 AND LEU-3172.
[10]	"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] HIS-161.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF337532 mRNA. Translation: AAK61861.1. AB054005 mRNA. Translation: BAB59128.1. AJ608769 mRNA. Translation: CAE75581.1. AJ626859 mRNA. Translation: CAF25186.1. AL158159, AL353710, AL359204 Genomic DNA. Translation: CAI40935.1. AL158159, AL353710, AL359204 Genomic DNA. Translation: CAI40936.1. AL353710, AL158159, AL359204 Genomic DNA. Translation: CAH74105.1. AL353710, AL158159, AL359204 Genomic DNA. Translation: CAH74106.1. AL359204, AL158159, AL353710 Genomic DNA. Translation: CAI39537.1. AL359204, AL158159, AL353710 Genomic DNA. Translation: CAI39538.1. AB023203 mRNA. Translation: BAA76830.1. BC020576 mRNA. Translation: AAH20576.1. Sequence problems. BC041852 mRNA. Translation: AAH41852.1. AK022967 mRNA. Translation: BAB14337.1.
IPI	IPI00478586. IPI00604660. IPI00746613. IPI00873376.
RefSeq	NP_001018047.1. NM_001018037.1. NP_001018048.1. NM_001018038.2. NP_056001.1. NM_015186.3. NP_150648.2. NM_033305.2.
UniGene	Hs.459790. Hs.662256.
3D structure databases
ProteinModelPortal	Q96RL7.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96RL7. 6 interactions.
PTM databases
PhosphoSite	Q96RL7.
Polymorphism databases
DMDM	71152975.
Proteomic databases
PaxDb	Q96RL7.
PRIDE	Q96RL7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000357409; ENSP00000349985; ENSG00000197969. ENST00000360280; ENSP00000353422; ENSG00000197969. ENST00000376634; ENSP00000365821; ENSG00000197969. ENST00000376636; ENSP00000365823; ENSG00000197969.
GeneID	23230.
KEGG	hsa:23230.
UCSC	uc004akp.4. human. uc004akq.4. human. uc004akr.3. human. uc004aks.3. human.
Organism-specific databases
CTD	23230.
GeneCards	GC09P079793.
HGNC	HGNC:1908. VPS13A.
HPA	HPA021652. HPA021662.
MIM	200150. phenotype. 605978. gene.
neXtProt	NX_Q96RL7.
Orphanet	2388. Choreoacanthocytosis.
PharmGKB	PA26444.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5043.
HOVERGEN	HBG079736.
OMA	MPKFKIF.
OrthoDB	EOG45QHC8.
Gene expression databases
ArrayExpress	Q96RL7.
Bgee	Q96RL7.
Genevestigator	Q96RL7.
GermOnline	ENSG00000197969. 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]
PROSITE	PS50005. TPR. False negative. PS50293. TPR_REGION. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	23230.
NextBio	44845.
SOURCE	Search...

Entry information

Entry name

VP13A_HUMAN

Accession

Primary (citable) accession number: Q96RL7
Secondary accession number(s): Q5JSX9 , Q5JSY0, Q5VYR5, Q702P4, Q709D0, Q86YF8, Q96S61, Q9H995, Q9Y2J1

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 27, 2002
Last sequence update:	July 19, 2005
Last modified:	May 1, 2013
This is version 105 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.