Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q96RL7 (VP13A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Vacuolar protein sorting-associated protein 13A
Alternative name(s):
Chorea-acanthocytosis protein
Chorein
Gene names
Name:VPS13A
Synonyms:CHAC, KIAA0986
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length3174 AA.
Sequence statusComplete.
Protein existenceEvidence 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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

NCK1P163333EBI-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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 31743174Vacuolar protein sorting-associated protein 13A
PRO_0000106277

Regions

Repeat212 – 24534TPR 1
Repeat373 – 40634TPR 2
Repeat537 – 57539TPR 3
Repeat1256 – 128934TPR 4
Repeat1291 – 132030TPR 5
Repeat2009 – 204133TPR 6
Repeat2568 – 260134TPR 7
Repeat2717 – 275135TPR 8
Repeat2860 – 289839TPR 9
Repeat3086 – 311934TPR 10

Natural variations

Alternative sequence1040 – 107839Missing in isoform 3.
VSP_014904
Alternative sequence3064 – 3174111VMENG…PSPSL → KIQFYREWIMTHSSSSDDDD DDDDDDESDLNH in isoform 2.
VSP_006550
Alternative sequence3064 – 30696VMENGR → ASKSLI in isoform 4.
VSP_014905
Alternative sequence3070 – 3174105Missing in isoform 4.
VSP_014906
Natural variant901I → K in CHAC. Ref.1
Corresponds to variant rs28939379 [ dbSNP | Ensembl ].
VAR_038420
Natural variant1611R → H in a colorectal cancer sample; somatic mutation. Ref.10
VAR_036324
Natural variant5651F → L. Ref.9
VAR_058114
Natural variant8981V → A. Ref.9
Corresponds to variant rs78048112 [ dbSNP | Ensembl ].
VAR_058115
Natural variant10951A → P in CHAC. Ref.9
VAR_058116
Natural variant14521S → P in CHAC. Ref.1
VAR_012803
Natural variant14901R → K. Ref.9
Corresponds to variant rs76077278 [ dbSNP | Ensembl ].
VAR_058117
Natural variant15871Y → C. Ref.9
Corresponds to variant rs149840356 [ dbSNP | Ensembl ].
VAR_058118
Natural variant19731V → I. Ref.9
Corresponds to variant rs41289969 [ dbSNP | Ensembl ].
VAR_058119
Natural variant24601W → R in CHAC. Ref.9
VAR_058120
Natural variant24861I → T. Ref.9
Corresponds to variant rs141138349 [ dbSNP | Ensembl ].
VAR_058121
Natural variant27211Y → C in CHAC. Ref.1
VAR_038421
Natural variant31721P → L. Ref.9
VAR_058122

Experimental info

Sequence conflict11981K → R in AAK61861. Ref.1
Sequence conflict18501L → R in AAH41852. Ref.6
Sequence conflict18801I → F in AAH41852. Ref.6
Sequence conflict22811G → E in BAB14337. Ref.7
Sequence conflict23541K → R in AAH41852. Ref.6
Sequence conflict24131T → R in BAB14337. Ref.7
Sequence conflict25671K → E in BAB14337. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (A) [UniParc].

Last modified July 19, 2005. Version 2.
Checksum: 58C8EC818E3350F4

FASTA3,174360,276
        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 

« Hide

Isoform 2 (B) [UniParc].

Checksum: 525800E2A69DDBF5
Show »

FASTA3,095350,903
Isoform 3 (Chorein 2A) [UniParc].

Checksum: 2C854C334B5C4B73
Show »

FASTA3,135355,861
Isoform 4 (Chorein 1D) [UniParc].

Checksum: 688A6FAAEA6B5CEE
Show »

FASTA3,069347,673

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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. expand/collapse author list , 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

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.
RefSeqNP_001018047.1. NM_001018037.1.
NP_001018048.1. NM_001018038.2.
NP_056001.1. NM_015186.3.
NP_150648.2. NM_033305.2.
UniGeneHs.459790.
Hs.662256.

3D structure databases

ProteinModelPortalQ96RL7.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116835. 2 interactions.
IntActQ96RL7. 7 interactions.

PTM databases

PhosphoSiteQ96RL7.

Polymorphism databases

DMDM71152975.

Proteomic databases

PaxDbQ96RL7.
PRIDEQ96RL7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000357409; ENSP00000349985; ENSG00000197969. [Q96RL7-2]
ENST00000360280; ENSP00000353422; ENSG00000197969. [Q96RL7-1]
ENST00000376634; ENSP00000365821; ENSG00000197969. [Q96RL7-4]
ENST00000376636; ENSP00000365823; ENSG00000197969. [Q96RL7-3]
GeneID23230.
KEGGhsa:23230.
UCSCuc004akp.4. human. [Q96RL7-4]
uc004akq.4. human. [Q96RL7-2]
uc004akr.3. human. [Q96RL7-1]
uc004aks.3. human. [Q96RL7-3]

Organism-specific databases

CTD23230.
GeneCardsGC09P079793.
HGNCHGNC:1908. VPS13A.
HPAHPA021652.
HPA021662.
MIM200150. phenotype.
605978. gene.
neXtProtNX_Q96RL7.
Orphanet2388. Choreoacanthocytosis.
PharmGKBPA26444.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5043.
HOVERGENHBG079736.
OMAYAIHGIL.
OrthoDBEOG7S4X52.
PhylomeDBQ96RL7.
TreeFamTF300316.

Gene expression databases

ArrayExpressQ96RL7.
BgeeQ96RL7.
GenevestigatorQ96RL7.

Family and domain databases

InterProIPR015412. Autophagy-rel_C.
IPR026847. VPS13.
IPR026854. VPS13A_N.
IPR009543. VPSAP_dom.
[Graphical view]
PANTHERPTHR16166. PTHR16166. 1 hit.
PfamPF09333. ATG_C. 1 hit.
PF12624. Chorein_N. 1 hit.
PF06650. DUF1162. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiVPS13A.
GenomeRNAi23230.
NextBio44845.
PROQ96RL7.
SOURCESearch...

Entry information

Entry nameVP13A_HUMAN
AccessionPrimary (citable) accession number: Q96RL7
Secondary accession number(s): Q5JSX9 expand/collapse secondary AC list , 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: April 16, 2014
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM