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Q96Q45 (TM237_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 79. 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:
Transmembrane protein 237
Alternative name(s):
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein
Gene names
Name:TMEM237
Synonyms:ALS2CR4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length408 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of the transition zone in primary cilia. Required for ciliogenesis. Ref.6

Subcellular location

Membrane; Multi-pass membrane protein Potential. Cell projectioncilium. Note: Localizes at the proximal region of primary cilia were observed, consistent with localization to the transition zone. Anchored to the transition zone by RPGRIP1L. Ref.6

Involvement in disease

Joubert syndrome 14 (JBTS14) [MIM:614424]: An autosomal recessive disorder characterized by severe mental retardation, hypotonia, breathing abnormalities in infancy, and dysmorphic facial features. 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 renal disease, abnormal eye movements, and postaxial polydactyly.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Sequence similarities

Belongs to the TMEM237 family.

Sequence caution

The sequence AAY14694.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence AAY15056.1 differs from that shown. Reason: Erroneous gene model prediction.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96Q45-1)

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: Q96Q45-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: MRTDSGARLEEGHL → MGKNPV
Isoform 3 (identifier: Q96Q45-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: MRTDSGARLEEGHL → MTHCACARDRAREGWGARCLGARRPPRPAKRRMGKNPV
Isoform 4 (identifier: Q96Q45-4)

The sequence of this isoform differs from the canonical sequence as follows:
     36-130: Missing.
Isoform 5 (identifier: Q96Q45-5)

The sequence of this isoform differs from the canonical sequence as follows:
     132-132: K → KRPYYR

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 408408Transmembrane protein 237
PRO_0000076169

Regions

Transmembrane227 – 24721Helical; Potential
Transmembrane268 – 28821Helical; Potential
Transmembrane303 – 32321Helical; Potential
Transmembrane358 – 37821Helical; Potential

Natural variations

Alternative sequence1 – 1414MRTDS…EEGHL → MGKNPV in isoform 2.
VSP_016628
Alternative sequence1 – 1414MRTDS…EEGHL → MTHCACARDRAREGWGARCL GARRPPRPAKRRMGKNPV in isoform 3.
VSP_042381
Alternative sequence36 – 13095Missing in isoform 4.
VSP_042382
Alternative sequence1321K → KRPYYR in isoform 5.
VSP_042383
Natural variant1551D → A Found at heterozygosity in a patient with Bardet-Biedl syndrome also carrying BBS6 mutation A-57 in MKKS; hypomorphic variant. Ref.6
VAR_067019

Experimental info

Sequence conflict201L → I in AAH29611. Ref.4
Sequence conflict1181P → Q in AAH29611. Ref.4
Sequence conflict1581T → A in BAG64880. Ref.2
Sequence conflict2151R → I in AAH29611. Ref.4
Sequence conflict2611L → I in AAH29611. Ref.4

Sequences

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

Last modified February 22, 2012. Version 2.
Checksum: 5FF78A331490D190

FASTA40845,526
        10         20         30         40         50         60 
MRTDSGARLE EGHLRPPRAL PPVPSQDDIP LSRPKKKKPR TKNTPASASL EGLAQTAGRR 

        70         80         90        100        110        120 
PSEGNEPSTK ELKEHPEAPV QRRQKKTRLP LELETSSTQK KSSSSSLLRN ENGIDAEPAE 

       130        140        150        160        170        180 
EAVIQKPRRK TKKTQPAELQ YANELGVEDE DIITDEQTTV EQQSVFTAPT GISQPVGKVF 

       190        200        210        220        230        240 
VEKSRRFQAA DRSELIKTTE NIDVSMDVKP SWTTRDVALT VHRAFRMIGL FSHGFLAGCA 

       250        260        270        280        290        300 
VWNIVVIYVL AGDQLSNLSN LLQQYKTLAY PFQSLLYLLL ALSTISAFDR IDFAKISVAI 

       310        320        330        340        350        360 
RNFLALDPTA LASFLYFTAL ILSLSQQMTS DRIHLYTPSS VNGSLWEAGI EEQILQPWIV 

       370        380        390        400 
VNLVVALLVG LSWLFLSYRP GMDLSEELMF SSEVEEYPDK EKEIKASS 

« Hide

Isoform 2 [UniParc].

Checksum: B1CFB9BF7823402D
Show »

FASTA40044,599
Isoform 3 [UniParc].

Checksum: 102BEFC17FEF823D
Show »

FASTA43248,244
Isoform 4 [UniParc].

Checksum: 0A2905B0D4DF85A4
Show »

FASTA31335,017
Isoform 5 [UniParc].

Checksum: F99A2856335DC3A9
Show »

FASTA41346,262

References

« Hide 'large scale' references
[1]"A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2."
Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S., Miyamoto N., Showguchi-Miyata J., Okada Y., Singaraja R., Figlewicz D.A., Kwiatkowski T., Hosler B.A., Sagie T., Skaug J., Nasir J., Brown R.H. Jr., Scherer S.W. expand/collapse author list , Rouleau G.A., Hayden M.R., Ikeda J.-E.
Nat. Genet. 29:166-173(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
[2]"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 2; 4 AND 5).
Tissue: Trachea.
[3]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"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: Brain and Ovary.
[5]"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 272-408.
Tissue: Fetal skin.
[6]"TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone."
Huang L., Szymanska K., Jensen V.L., Janecke A.R., Innes A.M., Davis E.E., Frosk P., Li C., Willer J.R., Chodirker B.N., Greenberg C.R., McLeod D.R., Bernier F.P., Chudley A.E., Muller T., Shboul M., Logan C.V., Loucks C.M. expand/collapse author list , Beaulieu C.L., Bowie R.V., Bell S.M., Adkins J., Zuniga F.I., Ross K.D., Wang J., Ban M.R., Becker C., Nurnberg P., Douglas S., Craft C.M., Akimenko M.A., Hegele R.A., Ober C., Utermann G., Bolz H.J., Bulman D.E., Katsanis N., Blacque O.E., Doherty D., Parboosingh J.S., Leroux M.R., Johnson C.A., Boycott K.M.
Am. J. Hum. Genet. 89:713-730(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN JBTS14, SUBCELLULAR LOCATION, FUNCTION, VARIANT ALA-155, CHARACTERIZATION OF VARIANT ALA-155.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB053301 mRNA. Translation: BAB69011.1.
AK090601 mRNA. Translation: BAC03487.1.
AK303954 mRNA. Translation: BAG64880.1.
AK304395 mRNA. Translation: BAG65230.1.
AC007279 Genomic DNA. Translation: AAY15056.1. Sequence problems.
AC007282 Genomic DNA. Translation: AAY14694.1. Sequence problems.
BC013730 mRNA. Translation: AAH13730.1.
BC029611 mRNA. Translation: AAH29611.1.
BX538000 mRNA. Translation: CAD97955.1.
CCDSCCDS46489.1. [Q96Q45-1]
CCDS46490.1. [Q96Q45-2]
RefSeqNP_001037850.1. NM_001044385.2. [Q96Q45-1]
NP_689601.2. NM_152388.3. [Q96Q45-2]
UniGeneHs.12319.

3D structure databases

ProteinModelPortalQ96Q45.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122382. 4 interactions.
IntActQ96Q45. 2 interactions.
STRING9606.ENSP00000380113.

PTM databases

PhosphoSiteQ96Q45.

Polymorphism databases

DMDM378405209.

Proteomic databases

MaxQBQ96Q45.
PaxDbQ96Q45.
PRIDEQ96Q45.

Protocols and materials databases

DNASU65062.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000409444; ENSP00000387203; ENSG00000155755. [Q96Q45-2]
ENST00000409883; ENSP00000386264; ENSG00000155755. [Q96Q45-1]
GeneID65062.
KEGGhsa:65062.
UCSCuc010zho.1. human. [Q96Q45-4]
uc021vvd.2. human. [Q96Q45-2]
uc021vvf.2. human. [Q96Q45-1]

Organism-specific databases

CTD65062.
GeneCardsGC02M202484.
GeneReviewsTMEM237.
HGNCHGNC:14432. TMEM237.
HPAHPA052596.
HPA054732.
MIM614423. gene.
614424. phenotype.
neXtProtNX_Q96Q45.
Orphanet475. Joubert syndrome.
220493. Joubert syndrome with ocular defect.
2318. Joubert syndrome with oculorenal defect.
220497. Joubert syndrome with renal defect.
PharmGKBPA24745.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG71278.
HOGENOMHOG000033887.
HOVERGENHBG060391.
InParanoidQ96Q45.
OMASWLFLSY.
OrthoDBEOG7T4MKS.
TreeFamTF329703.

Gene expression databases

ArrayExpressQ96Q45.
BgeeQ96Q45.
CleanExHS_ALS2CR4.
GenevestigatorQ96Q45.

Family and domain databases

InterProIPR029409. TMEM237.
[Graphical view]
PfamPF15383. TMEM237. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi65062.
NextBio67248.
PROQ96Q45.
SOURCESearch...

Entry information

Entry nameTM237_HUMAN
AccessionPrimary (citable) accession number: Q96Q45
Secondary accession number(s): B4E1R8 expand/collapse secondary AC list , B4E2R8, E9PAR8, E9PBF8, E9PG24, E9PGX0, Q53TS9, Q53TT2, Q7Z3B6, Q8IZ18, Q8NBF8, Q96CY1
Entry history
Integrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: February 22, 2012
Last modified: July 9, 2014
This is version 79 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 2

Human chromosome 2: entries, gene names and cross-references to MIM