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Protein

Uncharacterized protein C15orf41

Gene

C15orf41

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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, 1B1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn 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.

See also OMIM:615631
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

BgeeiQ9Y2V0.
CleanExiHS_C15orf41.
ExpressionAtlasiQ9Y2V0. baseline and differential.
GenevestigatoriQ9Y2V0.

Organism-specific databases

HPAiHPA061023.

Interactioni

Protein-protein interaction databases

BioGridi124120. 2 interactions.
STRINGi9606.ENSP00000401362.

Structurei

3D structure databases

ProteinModelPortaliQ9Y2V0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiNOG79822.
GeneTreeiENSGT00390000018465.
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. AlignAdd to basket

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

        10         20         30         40         50
MILTKAQYDE IAQCLVSVPP TRQSLRKLKQ RFPSQSQATL LSIFSQEYQK
60 70 80 90 100
HIKRTHAKHH TSEAIESYYQ RYLNGVVKNG AAPVLLDLAN EVDYAPSLMA
110 120 130 140 150
RLILERFLQE HEETPPSKSI INSMLRDPSQ IPDGVLANQV YQCIVNDCCY
160 170 180 190 200
GPLVDCIKHA IGHEHEVLLR DLLLEKNLSF LDEDQLRAKG YDKTPDFILQ
210 220 230 240 250
VPVAVEGHII HWIESKASFG DECSHHAYLH DQFWSYWNRF GPGLVIYWYG
260 270 280
FIQELDCNRE RGILLKACFP TNIVTLCHSI A
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.Curated

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. 2 PublicationsVSP_022271Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortaliQ9Y2V0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124120. 2 interactions.
STRINGi9606.ENSP00000401362.

PTM databases

PhosphoSiteiQ9Y2V0.

Polymorphism databases

DMDMi122063330.

Proteomic databases

MaxQBiQ9Y2V0.
PaxDbiQ9Y2V0.
PRIDEiQ9Y2V0.

Protocols and materials databases

DNASUi84529.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi84529.
GeneCardsiGC15P036871.
HGNCiHGNC:26929. C15orf41.
HPAiHPA061023.
MIMi615626. gene.
615631. phenotype.
neXtProtiNX_Q9Y2V0.
Orphaneti98869. Congenital dyserythropoietic anemia type I.
PharmGKBiPA142672277.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG79822.
GeneTreeiENSGT00390000018465.
HOGENOMiHOG000044476.
HOVERGENiHBG080425.
InParanoidiQ9Y2V0.
OrthoDBiEOG7BS4B2.
PhylomeDBiQ9Y2V0.
TreeFamiTF324079.

Miscellaneous databases

GenomeRNAii84529.
NextBioi74367.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y2V0.
CleanExiHS_C15orf41.
ExpressionAtlasiQ9Y2V0. baseline and differential.
GenevestigatoriQ9Y2V0.

Family and domain databases

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

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: January 7, 2015
This is version 91 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

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 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.