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Protein

Radial spoke head 14 homolog

Gene

RSPH14

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

EuPathDBiHostDB:ENSG00000100218.11
HGNCiHGNC:13437 RSPH14
MIMi605663 gene
neXtProtiNX_Q9UHP6

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000100218
PharmGKBiPA34878

Polymorphism and mutation databases

BioMutaiRTDR1
DMDMi29337004

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000975111 – 348Radial spoke head 14 homologAdd BLAST348

Proteomic databases

PaxDbiQ9UHP6
PeptideAtlasiQ9UHP6
PRIDEiQ9UHP6
ProteomicsDBi84388

PTM databases

iPTMnetiQ9UHP6
PhosphoSitePlusiQ9UHP6

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

BgeeiENSG00000100218 Expressed in 118 organ(s), highest expression level in caudate nucleus
CleanExiHS_RTDR1
ExpressionAtlasiQ9UHP6 baseline and differential
GenevisibleiQ9UHP6 HS

Organism-specific databases

HPAiHPA018420
HPA050425

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi118037, 17 interactors
IntActiQ9UHP6, 41 interactors
STRINGi9606.ENSP00000216036

Structurei

3D structure databases

ProteinModelPortaliQ9UHP6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati16 – 55ARM 1Sequence analysisAdd BLAST40
Repeati57 – 96ARM 2Sequence analysisAdd BLAST40
Repeati99 – 137ARM 3Sequence analysisAdd BLAST39
Repeati139 – 179ARM 4Sequence analysisAdd BLAST41
Repeati180 – 219ARM 5Sequence analysisAdd BLAST40
Repeati221 – 260ARM 6Sequence analysisAdd BLAST40
Repeati262 – 301ARM 7Sequence analysisAdd BLAST40
Repeati303 – 346ARM 8Sequence analysisAdd BLAST44

Sequence similaritiesi

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0167 Eukaryota
ENOG410XRTN LUCA
GeneTreeiENSGT00500000044989
HOGENOMiHOG000006865
HOVERGENiHBG076388
InParanoidiQ9UHP6
OMAiPLEGKNQ
OrthoDBiEOG091G0RNL
PhylomeDBiQ9UHP6
TreeFamiTF329375

Family and domain databases

Gene3Di1.25.10.10, 2 hits
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR000225 Armadillo
PfamiView protein in Pfam
PF00514 Arm, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B5MCI8B5MCI8_HUMAN
Radial spoke head 14 homolog
RSPH14
108Annotation score:
H7BZU8H7BZU8_HUMAN
Radial spoke head 14 homolog
RSPH14
67Annotation score:
H7C2M5H7C2M5_HUMAN
Radial spoke head 14 homolog
RSPH14
67Annotation score:
H7C3W6H7C3W6_HUMAN
Radial spoke head 14 homolog
RSPH14
73Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01544342T → M1 PublicationCorresponds to variant dbSNP:rs35211242Ensembl.1

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

Similar proteinsi

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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118037, 17 interactors
IntActiQ9UHP6, 41 interactors
STRINGi9606.ENSP00000216036

PTM databases

iPTMnetiQ9UHP6
PhosphoSitePlusiQ9UHP6

Polymorphism and mutation databases

BioMutaiRTDR1
DMDMi29337004

Proteomic databases

PaxDbiQ9UHP6
PeptideAtlasiQ9UHP6
PRIDEiQ9UHP6
ProteomicsDBi84388

Protocols and materials databases

DNASUi27156
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi27156
EuPathDBiHostDB:ENSG00000100218.11
GeneCardsiRSPH14
HGNCiHGNC:13437 RSPH14
HPAiHPA018420
HPA050425
MIMi605663 gene
neXtProtiNX_Q9UHP6
OpenTargetsiENSG00000100218
PharmGKBiPA34878
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0167 Eukaryota
ENOG410XRTN LUCA
GeneTreeiENSGT00500000044989
HOGENOMiHOG000006865
HOVERGENiHBG076388
InParanoidiQ9UHP6
OMAiPLEGKNQ
OrthoDBiEOG091G0RNL
PhylomeDBiQ9UHP6
TreeFamiTF329375

Miscellaneous databases

ChiTaRSiRSPH14 human
GenomeRNAii27156
PROiPR:Q9UHP6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100218 Expressed in 118 organ(s), highest expression level in caudate nucleus
CleanExiHS_RTDR1
ExpressionAtlasiQ9UHP6 baseline and differential
GenevisibleiQ9UHP6 HS

Family and domain databases

Gene3Di1.25.10.10, 2 hits
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR000225 Armadillo
PfamiView protein in Pfam
PF00514 Arm, 1 hit
SUPFAMiSSF48371 SSF48371, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRSP14_HUMAN
AccessioniPrimary (citable) accession number: Q9UHP6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 25, 2003
Last sequence update: May 1, 2000
Last modified: November 7, 2018
This is version 126 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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