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Q9BYV8 (CEP41_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 109. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Centrosomal protein of 41 kDa

Short name=Cep41
Alternative name(s):
Testis-specific gene A14 protein
Gene names
Name:CEP41
Synonyms:TSGA14
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length373 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required during ciliogenesis for tubulin glutamylation in cilium. Probably acts by participating in the transport of TTLL6, a tubulin polyglutamylase, between the basal body and the cilium. Ref.14

Subunit structure

Found in a complex with TTLL6.

Subcellular location

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cell projectioncilium. Cytoplasmcytoskeletoncilium basal body. Note: Localizes mainly to the cilium basal body and in primary cilia. Ref.10 Ref.14

Tissue specificity

Isoform 1 and isoform 4 are expressed in testis and fetal tissues. Ref.1

Domain

Although it contains a rhodanese domain, does not display phosphatase activity, suggesting that the protein is enzymatically inactive (Ref.14).

Involvement in disease

Joubert syndrome 15 (JBTS15) [MIM:614464]: An autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis and polydactyly.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.14

Genetic variations in CEP41 may be associated with susceptibility to autism.

Sequence similarities

Belongs to the CEP41 family.

Contains 1 rhodanese domain.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BYV8-1)

Also known as: L-type;

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: Q9BYV8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     254-325: Missing.
Isoform 3 (identifier: Q9BYV8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-238: Missing.
Isoform 4 (identifier: Q9BYV8-4)

Also known as: S-type;

The sequence of this isoform differs from the canonical sequence as follows:
     34-54: NSMTKYTEKLEEIKKNYRYKK → ACVYLTSSPALPDCAMNGLCF
     55-373: Missing.
Isoform 5 (identifier: Q9BYV8-5)

The sequence of this isoform differs from the canonical sequence as follows:
     33-49: GNSMTKYTEKLEEIKKN → D
     254-325: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 373373Centrosomal protein of 41 kDa
PRO_0000089489

Regions

Domain169 – 26698Rhodanese

Natural variations

Alternative sequence1 – 238238Missing in isoform 3.
VSP_012245
Alternative sequence33 – 4917GNSMT…EIKKN → D in isoform 5.
VSP_042579
Alternative sequence34 – 5421NSMTK…YRYKK → ACVYLTSSPALPDCAMNGLC F in isoform 4.
VSP_012246
Alternative sequence55 – 373319Missing in isoform 4.
VSP_012247
Alternative sequence254 – 32572Missing in isoform 2 and isoform 5.
VSP_012248
Natural variant361M → T Probable disease-associated mutation found in a patient with Joubert syndrome; digenic inheritance; the patient also carries a truncating mutation in CC2D2A. Ref.14
VAR_067053
Natural variant891Q → E Found in a patient with Meckel syndrome; unknown pathological significance. Ref.14
VAR_067054
Natural variant1791R → H Probable disease-associated mutation found in a patient with Joubert syndrome; digenic inheritance; the patient also carries a truncating mutation in KIF7. Ref.14
Corresponds to variant rs140259402 [ dbSNP | Ensembl ].
VAR_067055
Natural variant2061P → A Found in a patient with autism; unknown pathological significance. Ref.12
Corresponds to variant rs143303575 [ dbSNP | Ensembl ].
VAR_067056
Natural variant2401C → G Found in a patient with autism; unknown pathological significance. Ref.12
Corresponds to variant rs113941736 [ dbSNP | Ensembl ].
VAR_067057
Natural variant3601R → C Probable disease-associated mutation found in a patient with Joubert syndrome; digenic inheritance; the patient also carries mutation A-1447 in CC2D2A. Ref.14
VAR_067058

Experimental info

Sequence conflict1701D → G in BAB15359. Ref.4
Sequence conflict2791P → S in CAB94886. Ref.9

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (L-type) [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: 406F7FA9E8A4EAF8

FASTA37341,368
        10         20         30         40         50         60 
MSLRRHIGNP EYLMKRIPQN PRYQHIKSRL DTGNSMTKYT EKLEEIKKNY RYKKDELFKR 

        70         80         90        100        110        120 
LKVTTFAQLI IQVASLSDQT LEVTAEEIQR LEDNDSAASD PDAETTARTN GKGNPGEQSP 

       130        140        150        160        170        180 
SPEQFINNAG AGDSSRSTLQ SVISGVGELD LDKGPVKKAE PHTKDKPYPD CPFLLLDVRD 

       190        200        210        220        230        240 
RDSYQQCHIV GAYSYPIATL SRTMNPYSND ILEYKNAHGK IIILYDDDER LASQAATTMC 

       250        260        270        280        290        300 
ERGFENLFML SGGLKVLAQK FPEGLITGSL PASCQQALPP GSARKRSSPK GPPLPAENKW 

       310        320        330        340        350        360 
RFTPEDLKKI EYYLEEEQGP ADHPSRLNQA NSSGRESKVP GARSAQNLPG GGPASHSNPR 

       370 
SLSSGHLQGK PWK 

« Hide

Isoform 2 [UniParc].

Checksum: 708B91138A9EAF0A
Show »

FASTA30133,459
Isoform 3 [UniParc].

Checksum: 6AB16C4A014E74F5
Show »

FASTA13514,544
Isoform 4 (S-type) [UniParc].

Checksum: B262112EAF393402
Show »

FASTA546,165
Isoform 5 [UniParc].

Checksum: CA767ECB6A538A43
Show »

FASTA28531,579

References

« Hide 'large scale' references
[1]"The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting."
Yamada T., Kayashima T., Yamasaki K., Ohta T., Yoshiura K., Matsumoto N., Fujimoto S., Niikawa N., Kishino T.
Gene 288:57-63(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 4), TISSUE SPECIFICITY.
[2]"Identification of a testis-specific gene (TSGA14) proximal to the MEST/COPG2 imprinting cluster on chromosome 7."
Brunner B., Kalamajka R., Ropers H.-H., Fundele R., Kalscheuer V.M.
Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]Xu M., Xu Y.Z., Zhou Z.M., Sha J.H.
Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
Tissue: Testis.
[4]"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] (ISOFORMS 1 AND 5).
Tissue: Neuroblastoma, Trachea and Uterus.
[5]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"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] (ISOFORM 2).
Tissue: Eye.
[9]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 153-373 (ISOFORM 1).
Tissue: Melanoma.
[10]"Proteomic characterization of the human centrosome by protein correlation profiling."
Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M.
Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
Tissue: Lymphoblast.
[11]"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.
[12]"Mutations in the TSGA14 gene in families with autism spectrum disorders."
Korvatska O., Estes A., Munson J., Dawson G., Bekris L.M., Kohen R., Yu C.E., Schellenberg G.D., Raskind W.H.
Am. J. Med. Genet. B Neuropsychiatr. Genet. 156:303-311(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: POSSIBLE INVOLVEMENT IN AUTISM, VARIANTS ALA-206 AND GLY-240.
[13]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[14]"CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium."
Lee J.E., Silhavy J.L., Zaki M.S., Schroth J., Bielas S.L., Marsh S.E., Olvera J., Brancati F., Iannicelli M., Ikegami K., Schlossman A.M., Merriman B., Attie-Bitach T., Logan C.V., Glass I.A., Cluckey A., Louie C.M., Lee J.H. expand/collapse author list , Raynes H.R., Rapin I., Castroviejo I.P., Setou M., Barbot C., Boltshauser E., Nelson S.F., Hildebrandt F., Johnson C.A., Doherty D.A., Valente E.M., Gleeson J.G.
Nat. Genet. 44:193-199(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN JBTS15, INTERACTION WITH TTLL6, VARIANTS THR-36; GLU-89; HIS-179 AND CYS-360.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF429308 mRNA. Translation: AAM43959.1.
AF429309 mRNA. Translation: AAM43960.1.
AJ278890 mRNA. Translation: CAC33567.1.
AY186739 mRNA. Translation: AAO31692.1.
AK026098 mRNA. Translation: BAB15359.1.
AK298618 mRNA. Translation: BAG60797.1.
AK314676 mRNA. Translation: BAG37230.1.
AC007938 Genomic DNA. No translation available.
CH471070 Genomic DNA. Translation: EAW83764.1.
CH236950 Genomic DNA. Translation: EAL24088.1.
BC056162 mRNA. Translation: AAH56162.1.
AL359617 mRNA. Translation: CAB94886.1.
CCDSCCDS5821.1. [Q9BYV8-1]
CCDS59078.1. [Q9BYV8-5]
CCDS59079.1. [Q9BYV8-2]
CCDS59080.1. [Q9BYV8-4]
PIRT50634.
RefSeqNP_001244087.1. NM_001257158.1. [Q9BYV8-2]
NP_001244088.1. NM_001257159.1. [Q9BYV8-5]
NP_001244089.1. NM_001257160.1. [Q9BYV8-4]
NP_061188.1. NM_018718.2. [Q9BYV8-1]
UniGeneHs.368315.

3D structure databases

ProteinModelPortalQ9BYV8.
SMRQ9BYV8. Positions 173-260.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000223208.

PTM databases

PhosphoSiteQ9BYV8.

Polymorphism databases

DMDM56748870.

Proteomic databases

MaxQBQ9BYV8.
PaxDbQ9BYV8.
PRIDEQ9BYV8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000223208; ENSP00000223208; ENSG00000106477. [Q9BYV8-1]
ENST00000343969; ENSP00000342738; ENSG00000106477. [Q9BYV8-2]
ENST00000489512; ENSP00000417815; ENSG00000106477. [Q9BYV8-4]
ENST00000541543; ENSP00000445888; ENSG00000106477. [Q9BYV8-5]
ENST00000577507; ENSP00000463010; ENSG00000265594. [Q9BYV8-2]
ENST00000580443; ENSP00000462740; ENSG00000265594. [Q9BYV8-1]
ENST00000580536; ENSP00000462047; ENSG00000265594. [Q9BYV8-4]
GeneID95681.
KEGGhsa:95681.
UCSCuc003vpy.4. human. [Q9BYV8-3]
uc003vpz.4. human. [Q9BYV8-1]
uc003vqa.4. human. [Q9BYV8-2]
uc003vqb.2. human. [Q9BYV8-4]
uc011kpg.3. human. [Q9BYV8-5]

Organism-specific databases

CTD95681.
GeneCardsGC07M130038.
GeneReviewsCEP41.
HGNCHGNC:12370. CEP41.
HPAHPA024090.
MIM610523. gene.
614464. phenotype.
neXtProtNX_Q9BYV8.
Orphanet475. Joubert syndrome.
220493. Joubert syndrome with ocular defect.
PharmGKBPA37039.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG47422.
HOGENOMHOG000252966.
HOVERGENHBG050896.
InParanoidQ9BYV8.
KOK16455.
OMARLEDNDS.
PhylomeDBQ9BYV8.
TreeFamTF324682.

Enzyme and pathway databases

ReactomeREACT_115566. Cell Cycle.

Gene expression databases

ArrayExpressQ9BYV8.
BgeeQ9BYV8.
CleanExHS_TSGA14.
GenevestigatorQ9BYV8.

Family and domain databases

Gene3D3.40.250.10. 1 hit.
InterProIPR001763. Rhodanese-like_dom.
[Graphical view]
PfamPF00581. Rhodanese. 1 hit.
[Graphical view]
SMARTSM00450. RHOD. 1 hit.
[Graphical view]
SUPFAMSSF52821. SSF52821. 1 hit.
PROSITEPS50206. RHODANESE_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi95681.
NextBio78540.
PROQ9BYV8.
SOURCESearch...

Entry information

Entry nameCEP41_HUMAN
AccessionPrimary (citable) accession number: Q9BYV8
Secondary accession number(s): A4D1M0 expand/collapse secondary AC list , B4DQ35, F5H0V6, Q7Z496, Q86TM1, Q8NFU8, Q9H6A3, Q9NPV3
Entry history
Integrated into UniProtKB/Swiss-Prot: December 21, 2004
Last sequence update: June 1, 2001
Last modified: July 9, 2014
This is version 109 of the entry and version 1 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 7

Human chromosome 7: entries, gene names and cross-references to MIM