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Q9Y2V0

- CO041_HUMAN

UniProt

Q9Y2V0 - CO041_HUMAN

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Protein

Uncharacterized protein C15orf41

Gene
C15orf41
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at protein leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Uncharacterized protein C15orf41
Alternative name(s):
Protein HH114
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:26929. C15orf41.

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti94 – 941Y → C in CDAN1B. 1 Publication
VAR_070876
Natural varianti178 – 1781L → Q in CDAN1B. 1 Publication
VAR_070877

Keywords - Diseasei

Congenital dyserythropoietic anemia, Disease mutation, Hereditary hemolytic anemia

Organism-specific databases

MIMi615631. phenotype.
Orphaneti98869. Congenital dyserythropoietic anemia type I.
PharmGKBiPA142672277.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 281281Uncharacterized protein C15orf41PRO_0000271044Add
BLAST

Proteomic databases

MaxQBiQ9Y2V0.
PaxDbiQ9Y2V0.
PRIDEiQ9Y2V0.

PTM databases

PhosphoSiteiQ9Y2V0.

Expressioni

Gene expression databases

ArrayExpressiQ9Y2V0.
BgeeiQ9Y2V0.
CleanExiHS_C15orf41.
GenevestigatoriQ9Y2V0.

Organism-specific databases

HPAiHPA061023.

Interactioni

Protein-protein interaction databases

BioGridi124120. 2 interactions.
STRINGi9606.ENSP00000401362.

Structurei

3D structure databases

ProteinModelPortaliQ9Y2V0.

Family & Domainsi

Phylogenomic databases

eggNOGiNOG79822.
HOGENOMiHOG000044476.
HOVERGENiHBG080425.
InParanoidiQ9Y2V0.
OrthoDBiEOG7BS4B2.
PhylomeDBiQ9Y2V0.
TreeFamiTF324079.

Family and domain databases

InterProiIPR029404. DUF_TPD.
[Graphical view]
PfamiPF14811. TPD. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9Y2V0-1) [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

MILTKAQYDE IAQCLVSVPP TRQSLRKLKQ RFPSQSQATL LSIFSQEYQK    50
HIKRTHAKHH TSEAIESYYQ RYLNGVVKNG AAPVLLDLAN EVDYAPSLMA 100
RLILERFLQE HEETPPSKSI INSMLRDPSQ IPDGVLANQV YQCIVNDCCY 150
GPLVDCIKHA IGHEHEVLLR DLLLEKNLSF LDEDQLRAKG YDKTPDFILQ 200
VPVAVEGHII HWIESKASFG DECSHHAYLH DQFWSYWNRF GPGLVIYWYG 250
FIQELDCNRE RGILLKACFP TNIVTLCHSI A 281
Length:281
Mass (Da):32,264
Last modified:January 9, 2007 - v2
Checksum:i1DB9D466A61FE804
GO
Isoform 2 (identifier: Q9Y2V0-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:183
Mass (Da):21,109
Checksum:i079603A83982B202
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti73 – 731L → V.
Corresponds to variant rs3784678 [ dbSNP | Ensembl ].
VAR_059622
Natural varianti94 – 941Y → C in CDAN1B. 1 Publication
VAR_070876
Natural varianti178 – 1781L → Q in CDAN1B. 1 Publication
VAR_070877

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9898Missing in isoform 2. VSP_022271Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF114263 mRNA. Translation: AAD29606.1.
AK315446 mRNA. Translation: BAG37834.1.
CH471125 Genomic DNA. Translation: EAW92337.1.
BC006254 mRNA. Translation: AAH06254.1. Different initiation.
CCDSiCCDS45215.1. [Q9Y2V0-1]
CCDS45216.1. [Q9Y2V0-2]
RefSeqiNP_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]
UniGeneiHs.48348.

Genome annotation databases

EnsembliENST00000338183; ENSP00000342433; ENSG00000186073. [Q9Y2V0-2]
ENST00000437989; ENSP00000401362; ENSG00000186073. [Q9Y2V0-1]
ENST00000562877; ENSP00000457854; ENSG00000186073. [Q9Y2V0-2]
ENST00000566621; ENSP00000455397; ENSG00000186073. [Q9Y2V0-1]
ENST00000567389; ENSP00000456736; ENSG00000186073. [Q9Y2V0-2]
GeneIDi84529.
KEGGihsa:84529.
UCSCiuc001zje.4. human. [Q9Y2V0-1]

Polymorphism databases

DMDMi122063330.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF114263 mRNA. Translation: AAD29606.1 .
AK315446 mRNA. Translation: BAG37834.1 .
CH471125 Genomic DNA. Translation: EAW92337.1 .
BC006254 mRNA. Translation: AAH06254.1 . Different initiation.
CCDSi CCDS45215.1. [Q9Y2V0-1 ]
CCDS45216.1. [Q9Y2V0-2 ]
RefSeqi NP_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 ]
UniGenei Hs.48348.

3D structure databases

ProteinModelPortali Q9Y2V0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124120. 2 interactions.
STRINGi 9606.ENSP00000401362.

PTM databases

PhosphoSitei Q9Y2V0.

Polymorphism databases

DMDMi 122063330.

Proteomic databases

MaxQBi Q9Y2V0.
PaxDbi Q9Y2V0.
PRIDEi Q9Y2V0.

Protocols and materials databases

DNASUi 84529.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000338183 ; ENSP00000342433 ; ENSG00000186073 . [Q9Y2V0-2 ]
ENST00000437989 ; ENSP00000401362 ; ENSG00000186073 . [Q9Y2V0-1 ]
ENST00000562877 ; ENSP00000457854 ; ENSG00000186073 . [Q9Y2V0-2 ]
ENST00000566621 ; ENSP00000455397 ; ENSG00000186073 . [Q9Y2V0-1 ]
ENST00000567389 ; ENSP00000456736 ; ENSG00000186073 . [Q9Y2V0-2 ]
GeneIDi 84529.
KEGGi hsa:84529.
UCSCi uc001zje.4. human. [Q9Y2V0-1 ]

Organism-specific databases

CTDi 84529.
GeneCardsi GC15P036871.
HGNCi HGNC:26929. C15orf41.
HPAi HPA061023.
MIMi 615626. gene.
615631. phenotype.
neXtProti NX_Q9Y2V0.
Orphaneti 98869. Congenital dyserythropoietic anemia type I.
PharmGKBi PA142672277.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG79822.
HOGENOMi HOG000044476.
HOVERGENi HBG080425.
InParanoidi Q9Y2V0.
OrthoDBi EOG7BS4B2.
PhylomeDBi Q9Y2V0.
TreeFami TF324079.

Miscellaneous databases

GenomeRNAii 84529.
NextBioi 74367.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9Y2V0.
Bgeei Q9Y2V0.
CleanExi HS_C15orf41.
Genevestigatori Q9Y2V0.

Family and domain databases

InterProi IPR029404. DUF_TPD.
[Graphical view ]
Pfami PF14811. TPD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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. Cited for: VARIANTS CDAN1B CYS-94 AND GLN-178.

Entry informationi

Entry nameiCO041_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2V0
Secondary accession number(s): B2RD87
Entry historyi
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 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

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 (1 Publication).

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: 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

External Data

Dasty 3

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