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Protein

Uncharacterized protein C9orf43

Gene

C9orf43

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Uncharacterized protein C9orf43
Gene namesi
Name:C9orf43
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:23570. C9orf43.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134972642.

Polymorphism and mutation databases

BioMutaiC9orf43.
DMDMi71152406.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 461461Uncharacterized protein C9orf43PRO_0000089692Add
BLAST

Proteomic databases

EPDiQ8TAL5.
PaxDbiQ8TAL5.
PeptideAtlasiQ8TAL5.
PRIDEiQ8TAL5.

PTM databases

iPTMnetiQ8TAL5.
PhosphoSiteiQ8TAL5.

Expressioni

Gene expression databases

BgeeiQ8TAL5.
CleanExiHS_C9orf43.
ExpressionAtlasiQ8TAL5. baseline and differential.
GenevisibleiQ8TAL5. HS.

Organism-specific databases

HPAiHPA021310.
HPA021802.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
RABGAP1LQ5R372-23EBI-10694291,EBI-10692254

Protein-protein interaction databases

BioGridi129203. 4 interactions.
IntActiQ8TAL5. 1 interaction.
STRINGi9606.ENSP00000288462.

Structurei

3D structure databases

ProteinModelPortaliQ8TAL5.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi293 – 30412Gln-richAdd
BLAST

Phylogenomic databases

eggNOGiENOG410IKP4. Eukaryota.
ENOG41115SE. LUCA.
GeneTreeiENSGT00390000013600.
HOGENOMiHOG000111639.
HOVERGENiHBG061078.
InParanoidiQ8TAL5.
OMAiLPDESQW.
OrthoDBiEOG7GXPC5.
PhylomeDBiQ8TAL5.
TreeFamiTF337505.

Family and domain databases

InterProiIPR029134. DUF4647.
[Graphical view]
PfamiPF15504. DUF4647. 1 hit.
[Graphical view]
ProDomiPD575093. PD575093. 1 hit.
[Graphical view] [Entries sharing at least one domain]

Sequencei

Sequence statusi: Complete.

Q8TAL5-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDLPDESQWD ETTCGLAVCQ HPQCWATIRR IERGHPRILG SSCKTPLDAE
60 70 80 90 100
DKLPVLTVVD ILDSGFAAHH LPECTFTKAH SLLSQSSKFY SKFHGRPPKG
110 120 130 140 150
LPDKSLINCT NRLPKFPVLN LNETQLPCPE DVRNMVVLWI PEETEIHVSQ
160 170 180 190 200
HGKKKRKNSA VKSKSFLGLS GNQSAGTRVG TPGMIVPPPT PVQLSEQFSS
210 220 230 240 250
DFLPLWAQSE ALPQDLLKEL LPGGKQTMLC PEMKIKLAMM KKNLPLEKNR
260 270 280 290 300
PDSVISSKMF LSIHRLTLER PALRYPERLK KLHNLKTEGY RKQQQRQQQQ
310 320 330 340 350
QQQQKKVKTP IKKQEAKKKA KSDPGIQSTS HKHPVTTVHD RLYGYRTLPG
360 370 380 390 400
QNSDMKQQQQ MEKGTTSKQD STERPKMNYY DHADFHHSVK SPELYETEPT
410 420 430 440 450
NKDISAPVDA VPEAQAARQK KISFNFSEIM ASTGWNSELK LLRILQDTDD
460
EDEEDQSSGA E
Length:461
Mass (Da):52,222
Last modified:June 1, 2002 - v1
Checksum:i5091BF1A9AFAD68E
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti252 – 2521D → G.
Corresponds to variant rs41313331 [ dbSNP | Ensembl ].
VAR_061597

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL137066 Genomic DNA. Translation: CAH70101.1.
BC026884 mRNA. Translation: AAH26884.1.
BC033037 mRNA. Translation: AAH33037.1.
CCDSiCCDS6796.1.
RefSeqiNP_001265558.1. NM_001278629.1.
NP_689999.1. NM_152786.2.
UniGeneiHs.632691.

Genome annotation databases

EnsembliENST00000288462; ENSP00000288462; ENSG00000157653.
ENST00000374165; ENSP00000363280; ENSG00000157653.
GeneIDi257169.
KEGGihsa:257169.
UCSCiuc004bho.6. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL137066 Genomic DNA. Translation: CAH70101.1.
BC026884 mRNA. Translation: AAH26884.1.
BC033037 mRNA. Translation: AAH33037.1.
CCDSiCCDS6796.1.
RefSeqiNP_001265558.1. NM_001278629.1.
NP_689999.1. NM_152786.2.
UniGeneiHs.632691.

3D structure databases

ProteinModelPortaliQ8TAL5.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129203. 4 interactions.
IntActiQ8TAL5. 1 interaction.
STRINGi9606.ENSP00000288462.

PTM databases

iPTMnetiQ8TAL5.
PhosphoSiteiQ8TAL5.

Polymorphism and mutation databases

BioMutaiC9orf43.
DMDMi71152406.

Proteomic databases

EPDiQ8TAL5.
PaxDbiQ8TAL5.
PeptideAtlasiQ8TAL5.
PRIDEiQ8TAL5.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000288462; ENSP00000288462; ENSG00000157653.
ENST00000374165; ENSP00000363280; ENSG00000157653.
GeneIDi257169.
KEGGihsa:257169.
UCSCiuc004bho.6. human.

Organism-specific databases

CTDi257169.
GeneCardsiC9orf43.
H-InvDBHIX0201392.
HGNCiHGNC:23570. C9orf43.
HPAiHPA021310.
HPA021802.
neXtProtiNX_Q8TAL5.
PharmGKBiPA134972642.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IKP4. Eukaryota.
ENOG41115SE. LUCA.
GeneTreeiENSGT00390000013600.
HOGENOMiHOG000111639.
HOVERGENiHBG061078.
InParanoidiQ8TAL5.
OMAiLPDESQW.
OrthoDBiEOG7GXPC5.
PhylomeDBiQ8TAL5.
TreeFamiTF337505.

Miscellaneous databases

ChiTaRSiC9orf43. human.
GenomeRNAii257169.
PROiQ8TAL5.

Gene expression databases

BgeeiQ8TAL5.
CleanExiHS_C9orf43.
ExpressionAtlasiQ8TAL5. baseline and differential.
GenevisibleiQ8TAL5. HS.

Family and domain databases

InterProiIPR029134. DUF4647.
[Graphical view]
PfamiPF15504. DUF4647. 1 hit.
[Graphical view]
ProDomiPD575093. PD575093. 1 hit.
[Graphical view] [Entries sharing at least one domain]
ProtoNetiSearch...

Publicationsi

  1. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "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: Cervix and Testis.

Entry informationi

Entry nameiCI043_HUMAN
AccessioniPrimary (citable) accession number: Q8TAL5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: June 1, 2002
Last modified: July 6, 2016
This is version 97 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 9
    Human chromosome 9: 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

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.