Timm8a (translocase of inner mitochondrial membrane 8A) - Rat Genome Database

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Gene: Timm8a (translocase of inner mitochondrial membrane 8A) Ictidomys tridecemlineatus
Analyze
Symbol: Timm8a
Name: translocase of inner mitochondrial membrane 8A
RGD ID: 12601902
Description: ENCODES a protein that exhibits zinc ion binding (ortholog); INVOLVED IN protein targeting to mitochondrion (ortholog); PARTICIPATES IN beta-barrel pathway of mitochondrial protein import; ASSOCIATED WITH Animal Disease Models (ortholog); Auditory Neuropathy (ortholog); autistic disorder (ortholog); FOUND IN mitochondrial inner membrane (inferred); mitochondrial intermembrane space (inferred); mitochondrial intermembrane space protein transporter complex (inferred)
Type: protein-coding
RefSeq Status: MODEL
Previously known as: mitochondrial import inner membrane translocase subunit Tim8 A; translocase of inner mitochondrial membrane 8 homolog A
RGD Orthologs
Human
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: SpeTri2.0 - Squirrel SpeTri2.0 Assembly
Position:
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X63,046,368 - 63,049,115 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936813425,613 - 428,702 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936813425,613 - 428,722 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Timm8aSquirreldystonia susceptibilityISORGD:13503539068941DNA:mutation:exon; associated with deafnessRGDPMID:11405816|REF_RGD_ID:1600152
Timm8aSquirreldystonia  ISORGD:13503539068941DNA:deletion:cds:108delG(human)RGDPMID:11601506|REF_RGD_ID:13209134
1 to 12 of 12 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Timm8aSquirrelAuditory Neuropathy  ISORGD:13503538554872ClinVar Annotator: match by term: Auditory neuropathyClinVarPMID:30634948
Timm8aSquirrelautistic disorder  ISORGD:13503538554872ClinVar Annotator: match by term: AutismClinVarPMID:21681106|PMID:30208311
Timm8aSquirrelautosomal hemophilia A  ISORGD:13503538554872ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA AClinVarPMID:31690835
Timm8aSquirreldeafness-dystonia-optic neuronopathy syndrome  ISORGD:13503538554872ClinVar Annotator: match by term: Deafness dystonia syndromeClinVarPMID:10878669|PMID:11405816|PMID:11601506|PMID:11803487|PMID:11956200|PMID:15037720|PMID:15710860|PMID:16411215|PMID:17576681|PMID:17851739|PMID:17936919|PMID:17999202|PMID:20301395|PMID:21984432|PMID:22736418|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:8841189|PMID:9536098
Timm8aSquirreldevelopmental and epileptic encephalopathy 9  ISORGD:13503538554872ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 9ClinVarPMID:28492532
Timm8aSquirrelFabry disease  ISORGD:13503538554872ClinVar Annotator: match by term: Fabry diseaseClinVarPMID:10666480|PMID:12175777|PMID:28492532
Timm8aSquirrelfactor VIII deficiency  ISORGD:13503538554872ClinVar Annotator: match by term: Factor 8 deficiency, congenitalClinVarPMID:31690835
Timm8aSquirrelgenetic disease  ISORGD:13503538554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:24033266|PMID:28492532
Timm8aSquirrelisolated growth hormone deficiency type III  ISORGD:13503538554872ClinVar Annotator: match by term: X-linked agammaglobulinemia with growth hormone deficiencyClinVarPMID:11956200|PMID:21984432|PMID:22736418|PMID:28492532|PMID:7711734|PMID:9445504|PMID:9545398
Timm8aSquirrelROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED  ISORGD:13503538554872ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linkedClinVarPMID:28492532
Timm8aSquirrelsyndromic X-linked intellectual disability Lubs type  ISORGD:13503538554872ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs typeClinVarPMID:25741868
Timm8aSquirrelX-linked agammaglobulinemia  ISORGD:13503538554872ClinVar Annotator: match by term: X-linked agammaglobulinemiaClinVarPMID:25741868
1 to 12 of 12 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Timm8aSquirrelAnimal Disease Models  ISORGD:15513009068941CTD Direct Evidence: marker/mechanismCTDPMID:27602772
Timm8aSquirrellung adenocarcinoma  ISORGD:15513009068941CTD Direct Evidence: marker/mechanismCTDPMID:27602772
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Timm8aSquirreldeafness-dystonia-optic neuronopathy syndrome  ISORGD:13503537240710 OMIM 


Biological Process

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Timm8aSquirrelprotein insertion into mitochondrial inner membrane involved_inIEAUniProtKB:O60220|ensembl:ENSP00000361993150520179 EnsemblGO_REF:0000107
Timm8aSquirrelprotein targeting to mitochondrion  ISORGD:6218019068941 RGDPMID:12745081|REF_RGD_ID:724770
Timm8aSquirrelprotein transport involved_inIEAUniProtKB-KW:KW-0653|UniProtKB-KW:KW-0811150520179 UniProtGO_REF:0000043

Cellular Component

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Timm8aSquirrelmitochondrial inner membrane located_inIEAUniRule:UR001349767150520179 UniProtGO_REF:0000104
Timm8aSquirrelmitochondrial inner membrane located_inIEAUniProtKB-KW:KW-0999150520179 UniProtGO_REF:0000043
Timm8aSquirrelmitochondrial inner membrane located_inIEAUniProtKB-SubCell:SL-0168150520179 UniProtGO_REF:0000044
Timm8aSquirrelmitochondrial intermembrane space located_inIEAUniProtKB:O60220|ensembl:ENSP00000361993150520179 EnsemblGO_REF:0000107
Timm8aSquirrelmitochondrial intermembrane space protein transporter complex part_ofIEAUniProtKB:O60220|ensembl:ENSP00000361993150520179 EnsemblGO_REF:0000107
Timm8aSquirrelmitochondrion located_inIEAUniProtKB-KW:KW-0496150520179 UniProtGO_REF:0000043
Timm8aSquirrelmitochondrion located_inIEAUniProtKB:O60220|ensembl:ENSP00000361993150520179 EnsemblGO_REF:0000107

Molecular Function

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Timm8aSquirrelidentical protein binding enablesIEAUniProtKB:O60220|ensembl:ENSP00000361993150520179 EnsemblGO_REF:0000107
Timm8aSquirrelprotein binding  ISORGD:15644999068941 RGDPMID:12745081|REF_RGD_ID:724770
Timm8aSquirrelprotein binding enablesISOUniProtKB:O75886|UniProtKB:P190129068941 PMID:25416956IntActPMID:25416956
Timm8aSquirrelprotein binding enablesISOUniProtKB:O76024|UniProtKB:P42858|UniProtKB:P48643|UniProtKB:Q53GS7|UniProtKB:Q7Z699|UniProtKB:Q8WUW19068941 PMID:32814053IntActPMID:32814053
Timm8aSquirrelprotein binding enablesISOUniProtKB:O758869068941 PMID:25910212IntActPMID:25910212
Timm8aSquirrelprotein binding enablesISOUniProtKB:O43482|UniProtKB:O75886|UniProtKB:Q969G5|UniProtKB:Q99856|UniProtKB:Q9BXJ59068941 PMID:32296183IntActPMID:32296183
Timm8aSquirrelprotein binding enablesISOUniProtKB:Q9Y5L49068941 PMID:11956200, PMID:33961781IntActPMID:11956200|PMID:33961781
Timm8aSquirrelzinc ion binding  ISORGD:6218019068941 RGDPMID:12745081|REF_RGD_ID:724770

RGD Manual Annotations


  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
Timm8aSquirrelbeta-barrel pathway of mitochondrial protein import  ISORGD:13503539068941 RGDPMID:25305573|REF_RGD_ID:10412662


Timm8a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X63,046,368 - 63,049,115 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936813425,613 - 428,702 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936813425,613 - 428,722 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TIMM8A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X101,345,661 - 101,348,742 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX101,345,661 - 101,348,742 (-)EnsemblGRCh38hg38GRCh38
GRCh37X100,600,649 - 100,603,730 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,487,306 - 100,490,343 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X100,406,794 - 100,409,832NCBI
CeleraX101,120,103 - 101,123,416 (-)NCBICelera
Cytogenetic MapXq22.1NCBI
HuRefX90,406,792 - 90,410,105 (-)NCBIHuRef
CHM1_1X100,494,127 - 100,497,440 (-)NCBICHM1_1
T2T-CHM13v2.0X99,789,782 - 99,792,863 (-)NCBIT2T-CHM13v2.0
Timm8a1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X133,438,005 - 133,442,419 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX133,438,005 - 133,442,614 (-)EnsemblGRCm39 Ensembl
GRCm38X134,537,256 - 134,541,670 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX134,537,256 - 134,541,865 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X131,071,797 - 131,076,168 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X129,883,608 - 129,887,979 (-)NCBIMGSCv36mm8
CeleraX117,416,827 - 117,421,171 (-)NCBICelera
Cytogenetic MapXE3NCBI
cM MapX56.18NCBI
Timm8a1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X102,011,206 - 102,015,444 (-)NCBIGRCr8
mRatBN7.2X97,717,932 - 97,722,170 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX97,717,920 - 97,721,960 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX99,392,144 - 99,396,386 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X102,902,887 - 102,907,120 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X100,405,310 - 100,409,550 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X105,351,714 - 105,355,722 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX105,352,402 - 105,355,716 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X105,241,128 - 105,245,441 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X121,993,810 - 121,997,685 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X122,067,242 - 122,071,118 (-)NCBI
CeleraX98,758,800 - 98,762,786 (-)NCBICelera
Cytogenetic MapXq32NCBI
Timm8a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555037,480,075 - 7,483,218 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555037,480,075 - 7,483,218 (-)NCBIChiLan1.0ChiLan1.0
TIMM8A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X100,940,770 - 100,948,316 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X100,941,231 - 100,951,911 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X90,548,212 - 90,551,534 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X100,680,224 - 100,683,553 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX100,680,224 - 100,683,544 (-)Ensemblpanpan1.1panPan2
TIMM8A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X75,267,437 - 75,270,288 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX75,267,450 - 75,270,288 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X76,689,312 - 76,690,362 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1X74,251,957 - 74,254,808 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X75,912,378 - 75,915,229 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X75,674,818 - 75,677,669 (-)NCBIUU_Cfam_GSD_1.0
TIMM8A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX82,974,270 - 82,980,769 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X82,978,128 - 82,981,038 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X91,010,563 - 91,013,448 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TIMM8A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X89,686,772 - 89,690,088 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX89,687,304 - 89,689,810 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606514,605,999 - 14,609,337 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Timm8a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249021,216,991 - 1,223,426 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

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RefSeq Transcripts XM_005340687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide JAESOR010000614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSSTOT00000004708   ⟹   ENSSTOP00000004225
Type: CODING
Position:
Squirrel AssemblyChrPosition (strand)Source
SpeTri2.0 EnsemblNW_004936813425,613 - 428,702 (-)Ensembl
RefSeq Acc Id: XM_005340687   ⟹   XP_005340744
Type: CODING
Position:
Squirrel AssemblyChrPosition (strand)Source
HiC_Itri_2X63,046,368 - 63,049,115 (+)NCBI
SpeTri2.0NW_004936813425,613 - 428,722 (-)NCBI
Sequence:
Protein RefSeqs XP_005340744 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSSTOP00000004225.2
GenBank Protein KAG3272607 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: XP_005340744   ⟸   XM_005340687
- UniProtKB: I3M4Q9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSSTOP00000004225   ⟸   ENSSTOT00000004708
Tim10-like



1 to 9 of 9 rows
Database
Acc Id
Source(s)
Ensembl Genes ENSSTOG00000004718 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENSSTOT00000004708.3 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.810 UniProtKB/TrEMBL
InterPro Tim10-like UniProtKB/TrEMBL
  Tim10-like_dom_sf UniProtKB/TrEMBL
NCBI Gene Timm8a ENTREZGENE
Pfam zf-Tim10_DDP UniProtKB/TrEMBL
Superfamily-SCOP SSF144122 UniProtKB/TrEMBL
UniProt I3M4Q9 ENTREZGENE, UniProtKB/TrEMBL
1 to 9 of 9 rows