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Protein

Radial spoke head 14 homolog

Gene

RSPH14

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

Names & Taxonomyi

Protein namesi
Recommended name:
Radial spoke head 14 homolog
Alternative name(s):
Rhabdoid tumor deletion region protein 1
Gene namesi
Name:RSPH14Imported
Synonyms:RTDR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:13437. RSPH14.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34878.

Polymorphism and mutation databases

BioMutaiRTDR1.
DMDMi29337004.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 348348Radial spoke head 14 homologPRO_0000097511Add
BLAST

Proteomic databases

PaxDbiQ9UHP6.
PRIDEiQ9UHP6.

PTM databases

PhosphoSiteiQ9UHP6.

Expressioni

Tissue specificityi

Expressed in adult cerebellum, spinal cord, spleen, skeletal muscle and some/5 out of 9 rhabdoid tumors. Detected in fetal brain, lung, liver and kidney.1 Publication

Gene expression databases

BgeeiQ9UHP6.
CleanExiHS_RTDR1.
ExpressionAtlasiQ9UHP6. baseline and differential.
GenevisibleiQ9UHP6. HS.

Organism-specific databases

HPAiHPA018420.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
AP3M1Q9Y2T25EBI-748350,EBI-2371151
CCDC102BA1A4H13EBI-748350,EBI-10171570
CDR2Q018503EBI-748350,EBI-1181367
GABPB1Q065473EBI-748350,EBI-618165
GOLGA2Q083793EBI-748350,EBI-618309
KIFC3Q9BVG83EBI-748350,EBI-2125614
KRT31Q153233EBI-748350,EBI-948001
KRT40Q6A1623EBI-748350,EBI-10171697
RELQ048643EBI-748350,EBI-307352
TCF4P158843EBI-748350,EBI-533224
TRIM69Q86WT63EBI-748350,EBI-749955

Protein-protein interaction databases

BioGridi118037. 17 interactions.
IntActiQ9UHP6. 13 interactions.
MINTiMINT-1440635.
STRINGi9606.ENSP00000216036.

Structurei

3D structure databases

ProteinModelPortaliQ9UHP6.
SMRiQ9UHP6. Positions 151-303.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati16 – 5540ARM 1Sequence analysisAdd
BLAST
Repeati57 – 9640ARM 2Sequence analysisAdd
BLAST
Repeati99 – 13739ARM 3Sequence analysisAdd
BLAST
Repeati139 – 17941ARM 4Sequence analysisAdd
BLAST
Repeati180 – 21940ARM 5Sequence analysisAdd
BLAST
Repeati221 – 26040ARM 6Sequence analysisAdd
BLAST
Repeati262 – 30140ARM 7Sequence analysisAdd
BLAST
Repeati303 – 34644ARM 8Sequence analysisAdd
BLAST

Sequence similaritiesi

Contains 8 ARM repeats.Sequence analysis

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0167. Eukaryota.
ENOG410XRTN. LUCA.
GeneTreeiENSGT00500000044989.
HOGENOMiHOG000006865.
HOVERGENiHBG076388.
InParanoidiQ9UHP6.
OMAiVHLLKDP.
OrthoDBiEOG7FNC8D.
PhylomeDBiQ9UHP6.
TreeFamiTF329375.

Family and domain databases

Gene3Di1.25.10.10. 1 hit.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000225. Armadillo.
[Graphical view]
PfamiPF00514. Arm. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9UHP6-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAHSQNSLEL PININATQIT TAYGHRALPK LKEELQSEDL QTRQKALMAL
60 70 80 90 100
CDLMHDPECI YKAMNIGCME NLKALLKDSN SMVRIKTTEV LHITASHSVG
110 120 130 140 150
RYAFLEHDIV LALSFLLNDP SPVCRGNLYK AYMQLVQVPR GAQEIISKGL
160 170 180 190 200
ISSLVWKLQV EVEEEEFQEF ILDTLVLCLQ EDATEALGSN VVLVLKQKLL
210 220 230 240 250
SANQNIRSKA ARALLNVSIS REGKKQVCHF DVIPILVHLL KDPVEHVKSN
260 270 280 290 300
AAGALMFATV ITEGKYAALE AQAIGLLLEL LHSPMTIARL NATKALTMLA
310 320 330 340
EAPEGRKALQ THVPTFRAME VETYEKPQVA EALQRAARIA ISVIEFKP
Length:348
Mass (Da):38,592
Last modified:May 1, 2000 - v1
Checksum:iFAED74B2479179A0
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti42 – 421T → M.1 Publication
Corresponds to variant rs35211242 [ dbSNP | Ensembl ].
VAR_015443

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF133587 mRNA. Translation: AAF02484.1.
CR456567 mRNA. Translation: CAG30453.1.
AC245054 Genomic DNA. No translation available.
AC000029 Genomic DNA. No translation available.
BC008986 mRNA. Translation: AAH08986.1.
CCDSiCCDS13803.1.
RefSeqiNP_055248.1. NM_014433.2.
UniGeneiHs.526920.

Genome annotation databases

EnsembliENST00000216036; ENSP00000216036; ENSG00000100218.
GeneIDi27156.
KEGGihsa:27156.
UCSCiuc002zwt.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF133587 mRNA. Translation: AAF02484.1.
CR456567 mRNA. Translation: CAG30453.1.
AC245054 Genomic DNA. No translation available.
AC000029 Genomic DNA. No translation available.
BC008986 mRNA. Translation: AAH08986.1.
CCDSiCCDS13803.1.
RefSeqiNP_055248.1. NM_014433.2.
UniGeneiHs.526920.

3D structure databases

ProteinModelPortaliQ9UHP6.
SMRiQ9UHP6. Positions 151-303.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118037. 17 interactions.
IntActiQ9UHP6. 13 interactions.
MINTiMINT-1440635.
STRINGi9606.ENSP00000216036.

PTM databases

PhosphoSiteiQ9UHP6.

Polymorphism and mutation databases

BioMutaiRTDR1.
DMDMi29337004.

Proteomic databases

PaxDbiQ9UHP6.
PRIDEiQ9UHP6.

Protocols and materials databases

DNASUi27156.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216036; ENSP00000216036; ENSG00000100218.
GeneIDi27156.
KEGGihsa:27156.
UCSCiuc002zwt.4. human.

Organism-specific databases

CTDi27156.
GeneCardsiRSPH14.
HGNCiHGNC:13437. RSPH14.
HPAiHPA018420.
MIMi605663. gene.
neXtProtiNX_Q9UHP6.
PharmGKBiPA34878.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0167. Eukaryota.
ENOG410XRTN. LUCA.
GeneTreeiENSGT00500000044989.
HOGENOMiHOG000006865.
HOVERGENiHBG076388.
InParanoidiQ9UHP6.
OMAiVHLLKDP.
OrthoDBiEOG7FNC8D.
PhylomeDBiQ9UHP6.
TreeFamiTF329375.

Miscellaneous databases

ChiTaRSiRTDR1. human.
GenomeRNAii27156.
NextBioi49927.
PROiQ9UHP6.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UHP6.
CleanExiHS_RTDR1.
ExpressionAtlasiQ9UHP6. baseline and differential.
GenevisibleiQ9UHP6. HS.

Family and domain databases

Gene3Di1.25.10.10. 1 hit.
InterProiIPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR000225. Armadillo.
[Graphical view]
PfamiPF00514. Arm. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "Isolation of genes from the rhabdoid tumor deletion region in chromosome band 22q11.2."
    Zhou J.-Y., Fogelgren B., Wang Z., Roe B.A., Biegel J.A.
    Gene 241:133-141(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT MET-42.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  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].
    Tissue: Lymph.

Entry informationi

Entry nameiRSP14_HUMAN
AccessioniPrimary (citable) accession number: Q9UHP6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 25, 2003
Last sequence update: May 1, 2000
Last modified: March 16, 2016
This is version 108 of the entry and version 1 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 22
    Human chromosome 22: 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

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 one 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.