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Protein

Patched domain-containing protein 1

Gene

PTCHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  1. hedgehog receptor activity Source: InterPro

GO - Biological processi

  1. cognition Source: UniProtKB
  2. smoothened signaling pathway Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Patched domain-containing protein 1
Gene namesi
Name:PTCHD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:26392. PTCHD1.

Subcellular locationi

Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei20 – 4021HelicalSequence AnalysisAdd
BLAST
Transmembranei273 – 29321HelicalSequence AnalysisAdd
BLAST
Transmembranei298 – 31821HelicalSequence AnalysisAdd
BLAST
Transmembranei328 – 34821HelicalSequence AnalysisAdd
BLAST
Transmembranei373 – 39321HelicalSequence AnalysisAdd
BLAST
Transmembranei407 – 42721HelicalSequence AnalysisAdd
BLAST
Transmembranei502 – 52221HelicalSequence AnalysisAdd
BLAST
Transmembranei707 – 72721HelicalSequence AnalysisAdd
BLAST
Transmembranei738 – 75821HelicalSequence AnalysisAdd
BLAST
Transmembranei795 – 81521HelicalSequence AnalysisAdd
BLAST
Transmembranei826 – 84621HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

Orphaneti106. Autism.
777. X-linked non-syndromic intellectual disability.
PharmGKBiPA134942420.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 888888Patched domain-containing protein 1PRO_0000280040Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi77 – 771N-linked (GlcNAc...)Sequence Analysis
Glycosylationi133 – 1331N-linked (GlcNAc...)Sequence Analysis
Glycosylationi167 – 1671N-linked (GlcNAc...)Sequence Analysis
Glycosylationi319 – 3191N-linked (GlcNAc...)Sequence Analysis
Glycosylationi326 – 3261N-linked (GlcNAc...)Sequence Analysis
Glycosylationi568 – 5681N-linked (GlcNAc...)Sequence Analysis
Glycosylationi599 – 5991N-linked (GlcNAc...)Sequence Analysis
Glycosylationi608 – 6081N-linked (GlcNAc...)Sequence Analysis
Glycosylationi762 – 7621N-linked (GlcNAc...)Sequence Analysis
Glycosylationi818 – 8181N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ96NR3.
PRIDEiQ96NR3.

PTM databases

PhosphoSiteiQ96NR3.

Expressioni

Tissue specificityi

Widely expressed, including in various regions of the brain with highest expression in the gray and white cerebellum, followed by the cerebellar vermis and the pituitary gland.1 Publication

Gene expression databases

BgeeiQ96NR3.
CleanExiHS_PTCHD1.
ExpressionAtlasiQ96NR3. baseline and differential.
GenevestigatoriQ96NR3.

Organism-specific databases

HPAiHPA046110.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000368666.

Structurei

3D structure databases

ProteinModelPortaliQ96NR3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini268 – 427160SSDPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the patched family.Curated
Contains 1 SSD (sterol-sensing) domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG149152.
GeneTreeiENSGT00760000119174.
HOGENOMiHOG000049274.
HOVERGENiHBG080559.
InParanoidiQ96NR3.
OMAiAILFNYL.
OrthoDBiEOG718KCB.
PhylomeDBiQ96NR3.
TreeFamiTF331806.

Family and domain databases

InterProiIPR003392. Patched.
IPR000731. SSD.
[Graphical view]
PfamiPF02460. Patched. 1 hit.
[Graphical view]
PROSITEiPS50156. SSD. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96NR3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLRQVLHRGL RTCFSRLGHF IASHPVFFAS APVLISILLG ASFSRYQVEE
60 70 80 90 100
SVEHLLAPQH SLAKIERNLV NSLFPVNRSK HRLYSDLQTP GRYGRVIVTS
110 120 130 140 150
FQKANMLDQH HTDLILKLHA AVTKIQVPRP GFNYTFAHIC ILNNDKTCIV
160 170 180 190 200
DDIVHVLEEL KNARATNRTN FAITYPITHL KDGRAVYNGH QLGGVTVHSK
210 220 230 240 250
DRVKSAEAIQ LTYYLQSINS LNDMVAERWE SSFCDTVRLF QKSNSKVKMY
260 270 280 290 300
PYTSSSLRED FQKTSRVSER YLVTSLILVV TMAILCCSMQ DCVRSKPWLG
310 320 330 340 350
LLGLVTISLA TLTAAGIINL TGGKYNSTFL GVPFVMLGHG LYGTFEMLSS
360 370 380 390 400
WRKTREDQHV KERTAAVYAD SMLSFSLTTA MYLVTFGIGA SPFTNIEAAR
410 420 430 440 450
IFCCNSCIAI FFNYLYVLSF YGSSLVFTGY IENNYQHSIF CRKVPKPEAL
460 470 480 490 500
QEKPAWYRFL LTARFSEDTA EGEEANTYES HLLVCFLKRY YCDWITNTYV
510 520 530 540 550
KPFVVLFYLI YISFALMGYL QVSEGSDLSN IVATATQTIE YTTAQQKYFS
560 570 580 590 600
NYSPVIGFYI YESIEYWNTS VQEDVLEYTK GFVRISWFES YLNYLRKLNV
610 620 630 640 650
STGLPKKNFT DMLRNSFLKA PQFSHFQEDI IFSKKYNDEV DVVASRMFLV
660 670 680 690 700
AKTMETNREE LYDLLETLRR LSVTSKVKFI VFNPSFVYMD RYASSLGAPL
710 720 730 740 750
HNSCISALFL LFFSAFLVAD SLINVWITLT VVSVEFGVIG FMTLWKVELD
760 770 780 790 800
CISVLCLIYG INYTIDNCAP MLSTFVLGKD FTRTKWVKNA LEVHGVAILQ
810 820 830 840 850
SYLCYIVGLI PLAAVPSNLT CTLFRCLFLI AFVTFFHCFA ILPVILTFLP
860 870 880
PSKKKRKEKK NPENREEIEC VEMVDIDSTR VVDQITTV
Length:888
Mass (Da):101,341
Last modified:March 6, 2007 - v2
Checksum:i189E1C453CBF548F
GO
Isoform 2 (identifier: Q96NR3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-105: Missing.

Show »
Length:783
Mass (Da):89,431
Checksum:i8EF444616F4B95E4
GO
Isoform 3 (identifier: Q96NR3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-105: Missing.
     339-361: HGLYGTFEMLSSWRKTREDQHVK → NYYSSFFCFRLLVVLTRFLKGQE
     362-888: Missing.

Show »
Length:256
Mass (Da):28,889
Checksum:i9D6EE33CA399D976
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti5 – 51V → A in BAG60932 (PubMed:14702039).Curated
Sequence conflicti587 – 5871W → R in BAB70816 (PubMed:14702039).Curated
Sequence conflicti774 – 7741T → A in BAB70816 (PubMed:14702039).Curated
Sequence conflicti883 – 8831D → V in BAG60932 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti73 – 731L → F.1 Publication
VAR_064872
Natural varianti173 – 1731I → V.1 Publication
VAR_064873
Natural varianti195 – 1951V → I.1 Publication
VAR_064874
Natural varianti251 – 2511P → L.1 Publication
VAR_064875
Natural varianti336 – 3372ML → II.
VAR_064876
Natural varianti359 – 3591H → R.1 Publication
VAR_064877
Natural varianti470 – 4701A → D.1 Publication
VAR_064878
Natural varianti479 – 4791E → G.1 Publication
VAR_064879
Natural varianti497 – 4971N → K.1 Publication
Corresponds to variant rs35880456 [ dbSNP | Ensembl ].
VAR_064880

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 105105Missing in isoform 2 and isoform 3. 2 PublicationsVSP_023511Add
BLAST
Alternative sequencei339 – 36123HGLYG…DQHVK → NYYSSFFCFRLLVVLTRFLK GQE in isoform 3. 1 PublicationVSP_023512Add
BLAST
Alternative sequencei362 – 888527Missing in isoform 3. 1 PublicationVSP_023513Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK054858 mRNA. Translation: BAB70816.1.
AK298796 mRNA. Translation: BAG60932.1.
AC073910 Genomic DNA. No translation available.
BC062344 mRNA. Translation: AAH62344.1.
BC121061 mRNA. Translation: AAI21062.1.
CCDSiCCDS35215.2. [Q96NR3-1]
RefSeqiNP_775766.2. NM_173495.2. [Q96NR3-1]
UniGeneiHs.319503.

Genome annotation databases

EnsembliENST00000379361; ENSP00000368666; ENSG00000165186. [Q96NR3-1]
ENST00000616022; ENSP00000478663; ENSG00000165186. [Q96NR3-3]
GeneIDi139411.
KEGGihsa:139411.
UCSCiuc004dal.4. human. [Q96NR3-1]
uc010nfu.2. human. [Q96NR3-3]

Polymorphism databases

DMDMi146331074.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK054858 mRNA. Translation: BAB70816.1.
AK298796 mRNA. Translation: BAG60932.1.
AC073910 Genomic DNA. No translation available.
BC062344 mRNA. Translation: AAH62344.1.
BC121061 mRNA. Translation: AAI21062.1.
CCDSiCCDS35215.2. [Q96NR3-1]
RefSeqiNP_775766.2. NM_173495.2. [Q96NR3-1]
UniGeneiHs.319503.

3D structure databases

ProteinModelPortaliQ96NR3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000368666.

PTM databases

PhosphoSiteiQ96NR3.

Polymorphism databases

DMDMi146331074.

Proteomic databases

PaxDbiQ96NR3.
PRIDEiQ96NR3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000379361; ENSP00000368666; ENSG00000165186. [Q96NR3-1]
ENST00000616022; ENSP00000478663; ENSG00000165186. [Q96NR3-3]
GeneIDi139411.
KEGGihsa:139411.
UCSCiuc004dal.4. human. [Q96NR3-1]
uc010nfu.2. human. [Q96NR3-3]

Organism-specific databases

CTDi139411.
GeneCardsiGC0XP023352.
GeneReviewsiPTCHD1.
H-InvDBHIX0016700.
HGNCiHGNC:26392. PTCHD1.
HPAiHPA046110.
MIMi300828. gene.
neXtProtiNX_Q96NR3.
Orphaneti106. Autism.
777. X-linked non-syndromic intellectual disability.
PharmGKBiPA134942420.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG149152.
GeneTreeiENSGT00760000119174.
HOGENOMiHOG000049274.
HOVERGENiHBG080559.
InParanoidiQ96NR3.
OMAiAILFNYL.
OrthoDBiEOG718KCB.
PhylomeDBiQ96NR3.
TreeFamiTF331806.

Miscellaneous databases

GenomeRNAii139411.
NextBioi83956.
PROiQ96NR3.
SOURCEiSearch...

Gene expression databases

BgeeiQ96NR3.
CleanExiHS_PTCHD1.
ExpressionAtlasiQ96NR3. baseline and differential.
GenevestigatoriQ96NR3.

Family and domain databases

InterProiIPR003392. Patched.
IPR000731. SSD.
[Graphical view]
PfamiPF02460. Patched. 1 hit.
[Graphical view]
PROSITEiPS50156. SSD. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "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] (ISOFORMS 1 AND 2).
    Tissue: Cerebellum and Teratocarcinoma.
  2. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] (ISOFORMS 2 AND 3).
    Tissue: Ovary.
  4. "Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability."
    Noor A., Whibley A., Marshall C.R., Gianakopoulos P.J., Piton A., Carson A.R., Orlic-Milacic M., Lionel A.C., Sato D., Pinto D., Drmic I., Noakes C., Senman L., Zhang X., Mo R., Gauthier J., Crosbie J., Pagnamenta A.T.
    , Munson J., Estes A.M., Fiebig A., Franke A., Schreiber S., Stewart A.F., Roberts R., McPherson R., Guter S.J., Cook E.H. Jr., Dawson G., Schellenberg G.D., Battaglia A., Maestrini E., Jeng L., Hutchison T., Rajcan-Separovic E., Chudley A.E., Lewis S.M., Liu X., Holden J.J., Fernandez B., Zwaigenbaum L., Bryson S.E., Roberts W., Szatmari P., Gallagher L., Stratton M.R., Gecz J., Brady A.F., Schwartz C.E., Schachar R.J., Monaco A.P., Rouleau G.A., Hui C.C., Lucy Raymond F., Scherer S.W., Vincent J.B.
    Sci. Transl. Med. 2:49RA68-49RA68(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANTS PHE-73; VAL-173; ILE-195; LEU-251; 336-ILE-ILE-337; ARG-359; ASP-470; GLY-479 AND LYS-497.

Entry informationi

Entry nameiPTHD1_HUMAN
AccessioniPrimary (citable) accession number: Q96NR3
Secondary accession number(s): B4DQH0, Q0IJ60, Q6P6B8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: March 6, 2007
Last modified: January 7, 2015
This is version 90 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.