CDIN1_HUMAN
ID CDIN1_HUMAN Reviewed; 281 AA.
AC Q9Y2V0; B2RD87;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 09-JAN-2007, sequence version 2.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=CDAN1-interacting nuclease 1 {ECO:0000312|HGNC:HGNC:26929};
DE AltName: Full=Protein HH114;
GN Name=CDIN1 {ECO:0000312|HGNC:HGNC:26929}; Synonyms=C15orf41;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Heart;
RA Wei Y.J., Ding J.F., Xiong H., Zhou Y., Liew C.C.;
RT "Prediction of the coding sequence of an unidentified human gene.";
RL Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Heart;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Ovary;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-114, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [6]
RP VARIANTS CDAN1B CYS-94 AND GLN-178.
RX PubMed=23716552; DOI=10.3324/haematol.2013.089490;
RG WGS500 Consortium;
RA Babbs C., Roberts N.A., Sanchez-Pulido L., McGowan S.J., Ahmed M.R.,
RA Brown J.M., Sabry M.A., Bentley D.R., McVean G.A., Donnelly P., Gileadi O.,
RA Ponting C.P., Higgs D.R., Buckle V.J.;
RT "Homozygous mutations in a predicted endonuclease are a novel cause of
RT congenital dyserythropoietic anemia type I.";
RL Haematologica 98:1383-1387(2013).
RN [7]
RP VARIANTS CDAN1B ARG-20 AND CYS-236.
RX PubMed=29885034; DOI=10.1002/ajh.25157;
RA Palmblad J., Sander B., Bain B., Klimkowska M., Bjoerck E.;
RT "Congenital dyserythropoietic anemia type 1: a case with novel compound
RT heterozygous mutations in the C15orf41 gene.";
RL Am. J. Hematol. 0:0-0(2018).
RN [8]
RP VARIANTS CDAN1B SER-94 AND PRO-230, CHARACTERIZATION OF VARIANTS CDAN1B
RP SER-94 AND PRO-230, FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=31191338; DOI=10.3389/fphys.2019.00621;
RA Russo R., Marra R., Andolfo I., De Rosa G., Rosato B.E., Manna F.,
RA Gambale A., Raia M., Unal S., Barella S., Iolascon A.;
RT "Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type
RT I Shed Light on the Uncharacterized C15orf41 Protein.";
RL Front. Physiol. 10:621-621(2019).
CC -!- FUNCTION: Plays a role in erythroid cell differentiation.
CC {ECO:0000269|PubMed:31191338}.
CC -!- INTERACTION:
CC Q9Y2V0; Q15645: TRIP13; NbExp=3; IntAct=EBI-1047601, EBI-358993;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:31191338}. Cytoplasm
CC {ECO:0000269|PubMed:31191338}. Note=Mainly nuclear.
CC {ECO:0000269|PubMed:31191338}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9Y2V0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y2V0-2; Sequence=VSP_022271;
CC -!- DISEASE: Anemia, congenital dyserythropoietic, 1B (CDAN1B)
CC [MIM:615631]: An autosomal recessive blood disorder characterized by
CC morphological abnormalities of erythroblasts, ineffective
CC erythropoiesis, macrocytic anemia and secondary hemochromatosis. It is
CC occasionally associated with bone abnormalities, especially of the
CC hands and feet (acrodysostosis), nail hypoplasia, and scoliosis.
CC Ultrastructural features include internuclear chromatin bridges
CC connecting some nearly completely separated erythroblasts and an
CC abnormal appearance (spongy or Swiss-cheese appearance) of the
CC heterochromatin in a high proportion of the erythroblasts.
CC {ECO:0000269|PubMed:23716552, ECO:0000269|PubMed:29885034,
CC ECO:0000269|PubMed:31191338}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- CAUTION: Based on sequence similarity, it has been suggested that
CC C15orf41 might encode a divalent metal-ion dependent restriction
CC endonuclease, although nuclease activity could not be experimentally
CC proven. {ECO:0000305|PubMed:23716552}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH06254.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF114263; AAD29606.1; -; mRNA.
DR EMBL; AK315446; BAG37834.1; -; mRNA.
DR EMBL; CH471125; EAW92337.1; -; Genomic_DNA.
DR EMBL; BC006254; AAH06254.1; ALT_INIT; mRNA.
DR CCDS; CCDS45215.1; -. [Q9Y2V0-1]
DR CCDS; CCDS45216.1; -. [Q9Y2V0-2]
DR RefSeq; NP_001123482.1; NM_001130010.2. [Q9Y2V0-1]
DR RefSeq; NP_001277161.1; NM_001290232.1. [Q9Y2V0-2]
DR RefSeq; NP_001277162.1; NM_001290233.1.
DR RefSeq; NP_001308685.1; NM_001321756.1. [Q9Y2V0-2]
DR RefSeq; NP_001308688.1; NM_001321759.1. [Q9Y2V0-1]
DR RefSeq; NP_115888.1; NM_032499.5. [Q9Y2V0-2]
DR AlphaFoldDB; Q9Y2V0; -.
DR SMR; Q9Y2V0; -.
DR BioGRID; 124120; 29.
DR IntAct; Q9Y2V0; 4.
DR MINT; Q9Y2V0; -.
DR STRING; 9606.ENSP00000455397; -.
DR iPTMnet; Q9Y2V0; -.
DR PhosphoSitePlus; Q9Y2V0; -.
DR BioMuta; C15orf41; -.
DR DMDM; 122063330; -.
DR EPD; Q9Y2V0; -.
DR jPOST; Q9Y2V0; -.
DR MassIVE; Q9Y2V0; -.
DR MaxQB; Q9Y2V0; -.
DR PaxDb; Q9Y2V0; -.
DR PeptideAtlas; Q9Y2V0; -.
DR PRIDE; Q9Y2V0; -.
DR ProteomicsDB; 85907; -. [Q9Y2V0-1]
DR ProteomicsDB; 85908; -. [Q9Y2V0-2]
DR Antibodypedia; 53071; 129 antibodies from 15 providers.
DR DNASU; 84529; -.
DR Ensembl; ENST00000338183.8; ENSP00000342433.4; ENSG00000186073.14. [Q9Y2V0-2]
DR Ensembl; ENST00000437989.6; ENSP00000401362.2; ENSG00000186073.14. [Q9Y2V0-1]
DR Ensembl; ENST00000562877.5; ENSP00000457854.1; ENSG00000186073.14. [Q9Y2V0-2]
DR Ensembl; ENST00000566621.6; ENSP00000455397.1; ENSG00000186073.14. [Q9Y2V0-1]
DR Ensembl; ENST00000567389.5; ENSP00000456736.1; ENSG00000186073.14. [Q9Y2V0-2]
DR GeneID; 84529; -.
DR KEGG; hsa:84529; -.
DR MANE-Select; ENST00000566621.6; ENSP00000455397.1; NM_001321759.2; NP_001308688.1.
DR UCSC; uc001zje.5; human. [Q9Y2V0-1]
DR CTD; 84529; -.
DR DisGeNET; 84529; -.
DR GeneCards; CDIN1; -.
DR GeneReviews; CDIN1; -.
DR HGNC; HGNC:26929; CDIN1.
DR HPA; ENSG00000186073; Group enriched (heart muscle, tongue).
DR MalaCards; CDIN1; -.
DR MIM; 615626; gene.
DR MIM; 615631; phenotype.
DR neXtProt; NX_Q9Y2V0; -.
DR OpenTargets; ENSG00000186073; -.
DR Orphanet; 98869; Congenital dyserythropoietic anemia type I.
DR VEuPathDB; HostDB:ENSG00000186073; -.
DR eggNOG; ENOG502R9SY; Eukaryota.
DR GeneTree; ENSGT00390000018465; -.
DR HOGENOM; CLU_076808_0_1_1; -.
DR InParanoid; Q9Y2V0; -.
DR OrthoDB; 1476922at2759; -.
DR PhylomeDB; Q9Y2V0; -.
DR TreeFam; TF324079; -.
DR PathwayCommons; Q9Y2V0; -.
DR SignaLink; Q9Y2V0; -.
DR BioGRID-ORCS; 84529; 176 hits in 1055 CRISPR screens.
DR ChiTaRS; C15orf41; human.
DR GenomeRNAi; 84529; -.
DR Pharos; Q9Y2V0; Tbio.
DR PRO; PR:Q9Y2V0; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q9Y2V0; protein.
DR Bgee; ENSG00000186073; Expressed in left ventricle myocardium and 155 other tissues.
DR ExpressionAtlas; Q9Y2V0; baseline and differential.
DR Genevisible; Q9Y2V0; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0030218; P:erythrocyte differentiation; IMP:UniProtKB.
DR InterPro; IPR029404; CDIN1.
DR PANTHER; PTHR31661; PTHR31661; 1.
DR Pfam; PF14811; TPD; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Congenital dyserythropoietic anemia; Cytoplasm;
KW Disease variant; Hereditary hemolytic anemia; Nucleus; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..281
FT /note="CDAN1-interacting nuclease 1"
FT /id="PRO_0000271044"
FT MOD_RES 114
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..98
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039, ECO:0000303|Ref.1"
FT /id="VSP_022271"
FT VARIANT 20
FT /note="P -> R (in CDAN1B; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:29885034"
FT /id="VAR_082037"
FT VARIANT 73
FT /note="L -> V (in dbSNP:rs3784678)"
FT /id="VAR_059622"
FT VARIANT 94
FT /note="Y -> C (in CDAN1B; dbSNP:rs587777101)"
FT /evidence="ECO:0000269|PubMed:23716552"
FT /id="VAR_070876"
FT VARIANT 94
FT /note="Y -> S (in CDAN1B; no effect on gene expression and
FT protein level; impaired erythroid cell differentiation; no
FT effect on nuclear and cytoplasmic location;
FT dbSNP:rs587777101)"
FT /evidence="ECO:0000269|PubMed:31191338"
FT /id="VAR_082038"
FT VARIANT 178
FT /note="L -> Q (in CDAN1B; dbSNP:rs587777100)"
FT /evidence="ECO:0000269|PubMed:23716552"
FT /id="VAR_070877"
FT VARIANT 230
FT /note="H -> P (in CDAN1B; reduced gene expression and
FT protein level; impaired erythroid cell differentiation;
FT increased S-phase of the cell-cycle; no effect on nuclear
FT and cytoplasmic location)"
FT /evidence="ECO:0000269|PubMed:31191338"
FT /id="VAR_082039"
FT VARIANT 236
FT /note="Y -> C (in CDAN1B; unknown pathological
FT significance; dbSNP:rs768744226)"
FT /evidence="ECO:0000269|PubMed:29885034"
FT /id="VAR_082040"
SQ SEQUENCE 281 AA; 32264 MW; 1DB9D466A61FE804 CRC64;
MILTKAQYDE IAQCLVSVPP TRQSLRKLKQ RFPSQSQATL LSIFSQEYQK HIKRTHAKHH
TSEAIESYYQ RYLNGVVKNG AAPVLLDLAN EVDYAPSLMA RLILERFLQE HEETPPSKSI
INSMLRDPSQ IPDGVLANQV YQCIVNDCCY GPLVDCIKHA IGHEHEVLLR DLLLEKNLSF
LDEDQLRAKG YDKTPDFILQ VPVAVEGHII HWIESKASFG DECSHHAYLH DQFWSYWNRF
GPGLVIYWYG FIQELDCNRE RGILLKACFP TNIVTLCHSI A
