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Q9Y2V0 (CO041_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 88. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | 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:
Uncharacterized protein C15orf41
Alternative name(s):
Protein HH114
Gene names
Name:C15orf41
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length281 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Involvement in disease

Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631]: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is occasionally associated with bone abnormalities, especially of the hands and feet (acrodysostosis), nail hypoplasia, and scoliosis. Ultrastructural features include internuclear chromatin bridges connecting some nearly completely separated erythroblasts and an abnormal appearance (spongy or Swiss-cheese appearance) of the heterochromatin in a high proportion of the erythroblasts.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Caution

Based on sequence similarity, it has been suggested that C15orf41 might encode a divalent metal-ion dependent restriction endonuclease, although nuclease activity could not be experimentally proven (Ref.5).

Sequence caution

The sequence AAH06254.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y2V0-1)

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: Q9Y2V0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-98: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 281281Uncharacterized protein C15orf41
PRO_0000271044

Natural variations

Alternative sequence1 – 9898Missing in isoform 2.
VSP_022271
Natural variant731L → V.
Corresponds to variant rs3784678 [ dbSNP | Ensembl ].
VAR_059622
Natural variant941Y → C in CDAN1B. Ref.5
VAR_070876
Natural variant1781L → Q in CDAN1B. Ref.5
VAR_070877

Sequences

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

Last modified January 9, 2007. Version 2.
Checksum: 1DB9D466A61FE804

FASTA28132,264
        10         20         30         40         50         60 
MILTKAQYDE IAQCLVSVPP TRQSLRKLKQ RFPSQSQATL LSIFSQEYQK HIKRTHAKHH 

        70         80         90        100        110        120 
TSEAIESYYQ RYLNGVVKNG AAPVLLDLAN EVDYAPSLMA RLILERFLQE HEETPPSKSI 

       130        140        150        160        170        180 
INSMLRDPSQ IPDGVLANQV YQCIVNDCCY GPLVDCIKHA IGHEHEVLLR DLLLEKNLSF 

       190        200        210        220        230        240 
LDEDQLRAKG YDKTPDFILQ VPVAVEGHII HWIESKASFG DECSHHAYLH DQFWSYWNRF 

       250        260        270        280 
GPGLVIYWYG FIQELDCNRE RGILLKACFP TNIVTLCHSI A 

« Hide

Isoform 2 [UniParc].

Checksum: 079603A83982B202
Show »

FASTA18321,109

References

« Hide 'large scale' references
[1]"Prediction of the coding sequence of an unidentified human gene."
Wei Y.J., Ding J.F., Xiong H., Zhou Y., Liew C.C.
Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Heart.
[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] (ISOFORM 2).
Tissue: Heart.
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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 1).
Tissue: Ovary.
[5]"Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I."
WGS500 Consortium
Babbs C., Roberts N.A., Sanchez-Pulido L., McGowan S.J., Ahmed M.R., Brown J.M., Sabry M.A., Bentley D.R., McVean G.A., Donnelly P., Gileadi O., Ponting C.P., Higgs D.R., Buckle V.J.
Haematologica 98:1383-1387(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CDAN1B CYS-94 AND GLN-178.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF114263 mRNA. Translation: AAD29606.1.
AK315446 mRNA. Translation: BAG37834.1.
CH471125 Genomic DNA. Translation: EAW92337.1.
BC006254 mRNA. Translation: AAH06254.1. Different initiation.
CCDSCCDS45215.1. [Q9Y2V0-1]
CCDS45216.1. [Q9Y2V0-2]
RefSeqNP_001123482.1. NM_001130010.2. [Q9Y2V0-1]
NP_001277161.1. NM_001290232.1. [Q9Y2V0-2]
NP_001277162.1. NM_001290233.1.
NP_115888.1. NM_032499.5. [Q9Y2V0-2]
UniGeneHs.48348.

3D structure databases

ProteinModelPortalQ9Y2V0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124120. 2 interactions.
STRING9606.ENSP00000401362.

PTM databases

PhosphoSiteQ9Y2V0.

Polymorphism databases

DMDM122063330.

Proteomic databases

MaxQBQ9Y2V0.
PaxDbQ9Y2V0.
PRIDEQ9Y2V0.

Protocols and materials databases

DNASU84529.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000338183; ENSP00000342433; ENSG00000186073. [Q9Y2V0-2]
ENST00000437989; ENSP00000401362; ENSG00000186073. [Q9Y2V0-1]
ENST00000562877; ENSP00000457854; ENSG00000186073. [Q9Y2V0-2]
ENST00000566621; ENSP00000455397; ENSG00000186073. [Q9Y2V0-1]
ENST00000567389; ENSP00000456736; ENSG00000186073. [Q9Y2V0-2]
GeneID84529.
KEGGhsa:84529.
UCSCuc001zje.4. human. [Q9Y2V0-1]

Organism-specific databases

CTD84529.
GeneCardsGC15P036871.
HGNCHGNC:26929. C15orf41.
HPAHPA061023.
MIM615626. gene.
615631. phenotype.
neXtProtNX_Q9Y2V0.
Orphanet98869. Congenital dyserythropoietic anemia type I.
PharmGKBPA142672277.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG79822.
HOGENOMHOG000044476.
HOVERGENHBG080425.
InParanoidQ9Y2V0.
OrthoDBEOG7BS4B2.
PhylomeDBQ9Y2V0.
TreeFamTF324079.

Gene expression databases

ArrayExpressQ9Y2V0.
BgeeQ9Y2V0.
CleanExHS_C15orf41.
GenevestigatorQ9Y2V0.

Family and domain databases

InterProIPR029404. DUF_TPD.
[Graphical view]
PfamPF14811. TPD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi84529.
NextBio74367.
SOURCESearch...

Entry information

Entry nameCO041_HUMAN
AccessionPrimary (citable) accession number: Q9Y2V0
Secondary accession number(s): B2RD87
Entry history
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: January 9, 2007
Last modified: July 9, 2014
This is version 88 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

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 15

Human chromosome 15: entries, gene names and cross-references to MIM