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Protein

CMT1A duplicated region transcript 1 protein

Gene

CDRT1

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

Functioni

Enzyme and pathway databases

SignaLinkiO95170.

Names & Taxonomyi

Protein namesi
Recommended name:
CMT1A duplicated region transcript 1 protein
Gene namesi
Name:CDRT1
Synonyms:C17orf1, C17orf1A, HREP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:14379. CDRT1.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134869447.

Polymorphism and mutation databases

BioMutaiCDRT1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 752752CMT1A duplicated region transcript 1 proteinPRO_0000315833Add
BLAST

Proteomic databases

EPDiO95170.
PaxDbiO95170.
PRIDEiO95170.

PTM databases

PhosphoSiteiO95170.

Expressioni

Tissue specificityi

Expressed in pancreas, heart and skeletal muscle.2 Publications

Gene expression databases

BgeeiO95170.
CleanExiHS_CDRT1.
ExpressionAtlasiO95170. baseline and differential.
GenevisibleiO95170. HS.

Organism-specific databases

HPAiHPA013332.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000379242.

Structurei

3D structure databases

ProteinModelPortaliO95170.
SMRiO95170. Positions 275-685.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati169 – 20638WD 1Add
BLAST
Repeati409 – 44739WD 2Add
BLAST
Repeati451 – 49040WD 3Add
BLAST
Repeati493 – 53240WD 4Add
BLAST
Repeati534 – 56936WD 5Add
BLAST
Repeati572 – 60938WD 6Add
BLAST
Repeati611 – 65242WD 7Add
BLAST

Sequence similaritiesi

Contains 7 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IQCZ. Eukaryota.
ENOG410Z8UQ. LUCA.
GeneTreeiENSGT00760000119106.
HOGENOMiHOG000172165.
InParanoidiO95170.
OMAiLCWFGNS.
OrthoDBiEOG7KDFCB.
PhylomeDBiO95170.
TreeFamiTF329175.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR001810. F-box_dom.
IPR020472. G-protein_beta_WD-40_rep.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 3 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 5 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
SSF81383. SSF81383. 1 hit.
PROSITEiPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 3 hits.
PS50294. WD_REPEATS_REGION. 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: O95170-1) [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
MENLESRLKN APYFRCEKGT DSIPLCRKCE TRVLAWKIFS TKEWFCRIND
60 70 80 90 100
ISQRRFLVGI LKQLNSLYLL HYFQNILQTT QGKDFIYNRS RIDLSKKEGK
110 120 130 140 150
VVKSSLNQML DKTVEQKMKE ILYWFANSTQ WTKANYTLLL LQMCNPKLLL
160 170 180 190 200
TAANVIRVLF LREENNISGL NQDITDVCFS PEKDHSSKSA TSQVYWTAKT
210 220 230 240 250
QHTSLPLSKA PENEHFLGAA SNPEEPWRNS LRCISEMNRL FSGKADITKP
260 270 280 290 300
GYDPCNLLVD LDDIRDLSSG FSKYRDFIRY LPIHLSKYIL RMLDRHTLNK
310 320 330 340 350
CASVSQHWAA MAQQVKMDLS AHGFIQNQIT FLQGSYTRGI DPNYANKVSI
360 370 380 390 400
PVPKMVDDGK SMRVKHPKWK LRTKNEYNLW TAYQNEETQQ VLMEERNVFC
410 420 430 440 450
GTYNVRILSD TWDQNRVIHY SGGDLIAVSS NRKIHLLDII QVKAIPVEFR
460 470 480 490 500
GHAGSVRALF LCEEENFLLS GSYDLSIRYW DLKSGVCTRI FGGHQGTITC
510 520 530 540 550
MDLCKNRLVS GGRDCQVKVW DVDTGKCLKT FRHKDPILAT RINDTYIVSS
560 570 580 590 600
CERGLVKVWH IAMAQLVKTL SGHEGAVKCL FFDQWHLLSG STDGLVMAWS
610 620 630 640 650
MVGKYERCLM AFKHPKEVLD VSLLFLRVIS ACADGKIRIY NFFNGNCMKV
660 670 680 690 700
IKANGRGDPV LSFFIQGNRI SVCHISTFAK RINVGWNGIE PSATAQGGNA
710 720 730 740 750
SLTECAHVRL HIAGHLPASR LPVAAVQPMT GGMAPTTAPT HVLAMLILFS

GV
Length:752
Mass (Da):85,370
Last modified:February 8, 2011 - v3
Checksum:iC87CA2D9CF76D88F
GO
Isoform 2 (identifier: O95170-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-500: Missing.

Show »
Length:252
Mass (Da):27,567
Checksum:i8C661DC86CE52211
GO

Sequence cautioni

The sequence AAD10830.1 differs from that shown. Reason: Frameshift at position 165. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti504 – 5041C → G in AAD10830 (PubMed:9403059).Curated
Sequence conflicti619 – 6191L → P in AAC52034 (PubMed:9403059).Curated
Sequence conflicti628 – 6281V → I in AAC52034 (PubMed:9403059).Curated
Sequence conflicti628 – 6281V → I in AAD10830 (PubMed:9403059).Curated
Sequence conflicti634 – 6341D → N in AAC52034 (PubMed:9403059).Curated
Sequence conflicti634 – 6341D → N in AAD10830 (PubMed:9403059).Curated
Sequence conflicti644 – 6441N → H in AAC52034 (PubMed:9403059).Curated
Sequence conflicti644 – 6441N → H in AAD10830 (PubMed:9403059).Curated
Sequence conflicti653 – 6531A → T in AAD10830 (PubMed:9403059).Curated
Sequence conflicti663 – 6642Missing in AAD10830 (PubMed:9403059).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti643 – 6431F → L.1 Publication
Corresponds to variant rs8078150 [ dbSNP | Ensembl ].
VAR_038340

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 500500Missing in isoform 2. CuratedVSP_040554Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U43383 mRNA. Translation: AAD10830.1. Frameshift.
U65652 mRNA. Translation: AAC52034.1.
AF045592
, AF045588, AF045589, AF045590, AF045591 Genomic DNA. Translation: AAC69998.1.
AC005324 Genomic DNA. No translation available.
AC005838 Genomic DNA. No translation available.
CCDSiCCDS45619.1. [O95170-1]
RefSeqiNP_006373.2. NM_006382.3. [O95170-1]
UniGeneiHs.548021.
Hs.612600.
Hs.632233.

Genome annotation databases

EnsembliENST00000354433; ENSP00000346416; ENSG00000241322. [O95170-2]
ENST00000395906; ENSP00000379242; ENSG00000241322. [O95170-1]
GeneIDi374286.
UCSCiuc002gov.5. human. [O95170-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U43383 mRNA. Translation: AAD10830.1. Frameshift.
U65652 mRNA. Translation: AAC52034.1.
AF045592
, AF045588, AF045589, AF045590, AF045591 Genomic DNA. Translation: AAC69998.1.
AC005324 Genomic DNA. No translation available.
AC005838 Genomic DNA. No translation available.
CCDSiCCDS45619.1. [O95170-1]
RefSeqiNP_006373.2. NM_006382.3. [O95170-1]
UniGeneiHs.548021.
Hs.612600.
Hs.632233.

3D structure databases

ProteinModelPortaliO95170.
SMRiO95170. Positions 275-685.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000379242.

PTM databases

PhosphoSiteiO95170.

Polymorphism and mutation databases

BioMutaiCDRT1.

Proteomic databases

EPDiO95170.
PaxDbiO95170.
PRIDEiO95170.

Protocols and materials databases

DNASUi374286.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000354433; ENSP00000346416; ENSG00000241322. [O95170-2]
ENST00000395906; ENSP00000379242; ENSG00000241322. [O95170-1]
GeneIDi374286.
UCSCiuc002gov.5. human. [O95170-1]

Organism-specific databases

CTDi374286.
GeneCardsiCDRT1.
HGNCiHGNC:14379. CDRT1.
HPAiHPA013332.
MIMi604596. gene.
neXtProtiNX_O95170.
PharmGKBiPA134869447.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQCZ. Eukaryota.
ENOG410Z8UQ. LUCA.
GeneTreeiENSGT00760000119106.
HOGENOMiHOG000172165.
InParanoidiO95170.
OMAiLCWFGNS.
OrthoDBiEOG7KDFCB.
PhylomeDBiO95170.
TreeFamiTF329175.

Enzyme and pathway databases

SignaLinkiO95170.

Miscellaneous databases

GenomeRNAii374286.
NextBioi100140.
PROiO95170.
SOURCEiSearch...

Gene expression databases

BgeeiO95170.
CleanExiHS_CDRT1.
ExpressionAtlasiO95170. baseline and differential.
GenevisibleiO95170. HS.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR001810. F-box_dom.
IPR020472. G-protein_beta_WD-40_rep.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 3 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 5 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
SSF81383. SSF81383. 1 hit.
PROSITEiPS00678. WD_REPEATS_1. 1 hit.
PS50082. WD_REPEATS_2. 3 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "The Charcot-Marie-Tooth binary repeat contains a gene transcribed from the opposite strand of a partially duplicated region of the COX10 gene."
    Kennerson M.L., Nassif N.T., Dawkins J.L., DeKroon R.M., Yang J.G., Nicholson G.A.
    Genomics 46:61-69(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT LEU-643.
    Tissue: Brain.
  2. "Genomic structure and physical mapping of C17orf1: a gene associated with the proximal element of the CMT1A-REP binary repeat."
    Kennerson M.L., Nassif N.T., Nicholson G.A.
    Genomics 53:110-112(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
  3. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes."
    Inoue K., Dewar K., Katsanis N., Reiter L.T., Lander E.S., Devon K.L., Wyman D.W., Lupski J.R., Birren B.
    Genome Res. 11:1018-1033(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.

Entry informationi

Entry nameiCDRT1_HUMAN
AccessioniPrimary (citable) accession number: O95170
Secondary accession number(s): O43848, O95611
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: February 8, 2011
Last modified: March 16, 2016
This is version 107 of the entry and version 3 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

Miscellaneous

CDRT1 gene is located centromeric to and partially within proximal CMT1A-REP element. CMT1A-REP is a complex binary repeat element flanking a 1.5-Mb DNA region duplicated in Charcot-Marie-Tooth disease type I (CMT1A) or deleted in Hereditary neuropathy (HNPP).

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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
  5. SIMILARITY comments
    Index of protein domains and families

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.