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Q96Q45

- TM237_HUMAN

UniProt

Q96Q45 - TM237_HUMAN

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Protein

Transmembrane protein 237

Gene
TMEM237, ALS2CR4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Component of the transition zone in primary cilia. Required for ciliogenesis.1 Publication

GO - Biological processi

  1. cilium assembly Source: UniProtKB
  2. regulation of Wnt signaling pathway Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 237
Alternative name(s):
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein
Gene namesi
Name:TMEM237
Synonyms:ALS2CR4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:14432. TMEM237.

Subcellular locationi

Membrane; Multi-pass membrane protein Reviewed prediction. 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.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei227 – 24721Helical; Reviewed predictionAdd
BLAST
Transmembranei268 – 28821Helical; Reviewed predictionAdd
BLAST
Transmembranei303 – 32321Helical; Reviewed predictionAdd
BLAST
Transmembranei358 – 37821Helical; Reviewed predictionAdd
BLAST

GO - Cellular componenti

  1. ciliary transition zone Source: UniProtKB
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Keywords - Diseasei

Ciliopathy, Joubert syndrome

Organism-specific databases

MIMi614424. phenotype.
Orphaneti475. Joubert syndrome.
220493. Joubert syndrome with ocular defect.
2318. Joubert syndrome with oculorenal defect.
220497. Joubert syndrome with renal defect.
PharmGKBiPA24745.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 408408Transmembrane protein 237PRO_0000076169Add
BLAST

Proteomic databases

MaxQBiQ96Q45.
PaxDbiQ96Q45.
PRIDEiQ96Q45.

PTM databases

PhosphoSiteiQ96Q45.

Expressioni

Gene expression databases

ArrayExpressiQ96Q45.
BgeeiQ96Q45.
CleanExiHS_ALS2CR4.
GenevestigatoriQ96Q45.

Organism-specific databases

HPAiHPA052596.
HPA054732.

Interactioni

Protein-protein interaction databases

BioGridi122382. 4 interactions.
IntActiQ96Q45. 2 interactions.
STRINGi9606.ENSP00000380113.

Structurei

3D structure databases

ProteinModelPortaliQ96Q45.

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM237 family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG71278.
HOGENOMiHOG000033887.
HOVERGENiHBG060391.
InParanoidiQ96Q45.
OMAiSWLFLSY.
OrthoDBiEOG7T4MKS.
TreeFamiTF329703.

Family and domain databases

InterProiIPR029409. TMEM237.
[Graphical view]
PfamiPF15383. TMEM237. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96Q45-1) [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

MRTDSGARLE EGHLRPPRAL PPVPSQDDIP LSRPKKKKPR TKNTPASASL    50
EGLAQTAGRR PSEGNEPSTK ELKEHPEAPV QRRQKKTRLP LELETSSTQK 100
KSSSSSLLRN ENGIDAEPAE EAVIQKPRRK TKKTQPAELQ YANELGVEDE 150
DIITDEQTTV EQQSVFTAPT GISQPVGKVF VEKSRRFQAA DRSELIKTTE 200
NIDVSMDVKP SWTTRDVALT VHRAFRMIGL FSHGFLAGCA VWNIVVIYVL 250
AGDQLSNLSN LLQQYKTLAY PFQSLLYLLL ALSTISAFDR IDFAKISVAI 300
RNFLALDPTA LASFLYFTAL ILSLSQQMTS DRIHLYTPSS VNGSLWEAGI 350
EEQILQPWIV VNLVVALLVG LSWLFLSYRP GMDLSEELMF SSEVEEYPDK 400
EKEIKASS 408
Length:408
Mass (Da):45,526
Last modified:February 22, 2012 - v2
Checksum:i5FF78A331490D190
GO
Isoform 2 (identifier: Q96Q45-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: MRTDSGARLEEGHL → MGKNPV

Show »
Length:400
Mass (Da):44,599
Checksum:iB1CFB9BF7823402D
GO
Isoform 3 (identifier: Q96Q45-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: MRTDSGARLEEGHL → MTHCACARDRAREGWGARCLGARRPPRPAKRRMGKNPV

Show »
Length:432
Mass (Da):48,244
Checksum:i102BEFC17FEF823D
GO
Isoform 4 (identifier: Q96Q45-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     36-130: Missing.

Show »
Length:313
Mass (Da):35,017
Checksum:i0A2905B0D4DF85A4
GO
Isoform 5 (identifier: Q96Q45-5) [UniParc]FASTAAdd to Basket

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

Show »
Length:413
Mass (Da):46,262
Checksum:iF99A2856335DC3A9
GO

Sequence cautioni

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.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti155 – 1551D → A Found at heterozygosity in a patient with Bardet-Biedl syndrome also carrying BBS6 mutation A-57 in MKKS; hypomorphic variant. 1 Publication
VAR_067019

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 1414MRTDS…EEGHL → MGKNPV in isoform 2. VSP_016628Add
BLAST
Alternative sequencei1 – 1414MRTDS…EEGHL → MTHCACARDRAREGWGARCL GARRPPRPAKRRMGKNPV in isoform 3. VSP_042381Add
BLAST
Alternative sequencei36 – 13095Missing in isoform 4. VSP_042382Add
BLAST
Alternative sequencei132 – 1321K → KRPYYR in isoform 5. VSP_042383

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti20 – 201L → I in AAH29611. 1 Publication
Sequence conflicti118 – 1181P → Q in AAH29611. 1 Publication
Sequence conflicti158 – 1581T → A in BAG64880. 1 Publication
Sequence conflicti215 – 2151R → I in AAH29611. 1 Publication
Sequence conflicti261 – 2611L → I in AAH29611. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS46489.1. [Q96Q45-1]
CCDS46490.1. [Q96Q45-2]
RefSeqiNP_001037850.1. NM_001044385.2. [Q96Q45-1]
NP_689601.2. NM_152388.3. [Q96Q45-2]
UniGeneiHs.12319.

Genome annotation databases

EnsembliENST00000409444; ENSP00000387203; ENSG00000155755. [Q96Q45-2]
ENST00000409883; ENSP00000386264; ENSG00000155755. [Q96Q45-1]
GeneIDi65062.
KEGGihsa:65062.
UCSCiuc010zho.1. human. [Q96Q45-4]
uc021vvd.2. human. [Q96Q45-2]
uc021vvf.2. human. [Q96Q45-1]

Polymorphism databases

DMDMi378405209.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS46489.1. [Q96Q45-1 ]
CCDS46490.1. [Q96Q45-2 ]
RefSeqi NP_001037850.1. NM_001044385.2. [Q96Q45-1 ]
NP_689601.2. NM_152388.3. [Q96Q45-2 ]
UniGenei Hs.12319.

3D structure databases

ProteinModelPortali Q96Q45.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122382. 4 interactions.
IntActi Q96Q45. 2 interactions.
STRINGi 9606.ENSP00000380113.

PTM databases

PhosphoSitei Q96Q45.

Polymorphism databases

DMDMi 378405209.

Proteomic databases

MaxQBi Q96Q45.
PaxDbi Q96Q45.
PRIDEi Q96Q45.

Protocols and materials databases

DNASUi 65062.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000409444 ; ENSP00000387203 ; ENSG00000155755 . [Q96Q45-2 ]
ENST00000409883 ; ENSP00000386264 ; ENSG00000155755 . [Q96Q45-1 ]
GeneIDi 65062.
KEGGi hsa:65062.
UCSCi uc010zho.1. human. [Q96Q45-4 ]
uc021vvd.2. human. [Q96Q45-2 ]
uc021vvf.2. human. [Q96Q45-1 ]

Organism-specific databases

CTDi 65062.
GeneCardsi GC02M202484.
GeneReviewsi TMEM237.
HGNCi HGNC:14432. TMEM237.
HPAi HPA052596.
HPA054732.
MIMi 614423. gene.
614424. phenotype.
neXtProti NX_Q96Q45.
Orphaneti 475. Joubert syndrome.
220493. Joubert syndrome with ocular defect.
2318. Joubert syndrome with oculorenal defect.
220497. Joubert syndrome with renal defect.
PharmGKBi PA24745.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG71278.
HOGENOMi HOG000033887.
HOVERGENi HBG060391.
InParanoidi Q96Q45.
OMAi SWLFLSY.
OrthoDBi EOG7T4MKS.
TreeFami TF329703.

Miscellaneous databases

GenomeRNAii 65062.
NextBioi 67248.
PROi Q96Q45.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96Q45.
Bgeei Q96Q45.
CleanExi HS_ALS2CR4.
Genevestigatori Q96Q45.

Family and domain databases

InterProi IPR029409. TMEM237.
[Graphical view ]
Pfami PF15383. TMEM237. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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.
    , 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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 272-408.
    Tissue: Fetal skin.
  6. Cited for: INVOLVEMENT IN JBTS14, SUBCELLULAR LOCATION, FUNCTION, VARIANT ALA-155, CHARACTERIZATION OF VARIANT ALA-155.

Entry informationi

Entry nameiTM237_HUMAN
AccessioniPrimary (citable) accession number: Q96Q45
Secondary accession number(s): B4E1R8
, B4E2R8, E9PAR8, E9PBF8, E9PG24, E9PGX0, Q53TS9, Q53TT2, Q7Z3B6, Q8IZ18, Q8NBF8, Q96CY1
Entry historyi
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 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 2
    Human chromosome 2: 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

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