TTLL1 (TTL family tubulin polyglutamylase complex subunit L1) - Rat Genome Database

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Gene: TTLL1 (TTL family tubulin polyglutamylase complex subunit L1) Homo sapiens
Analyze
Symbol: TTLL1
Name: TTL family tubulin polyglutamylase complex subunit L1
RGD ID: 1319289
HGNC Page HGNC:1312
Description: Enables tubulin-glutamic acid ligase activity. Involved in microtubule cytoskeleton organization. Is active in microtubule.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C22orf7; catalytic subunit of neural tubulin polyglutamylase; HS323M22B; PGs3; polyglutamylase complex subunit TTLL1; polyglutamylase subunit 3; probable tubulin polyglutamylase TTLL1; TPGS3; tubulin polyglutamylase complex subunit 3; tubulin polyglutamylase TTLL1; tubulin tyrosine ligase like 1; tubulin tyrosine ligase-like family member 1; tubulin tyrosine ligase-like family, member 1; tubulin--tyrosine ligase-like protein 1; tubulin-tyrosine ligase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382243,039,516 - 43,089,391 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2243,039,516 - 43,089,419 (-)EnsemblGRCh38hg38GRCh38
GRCh372243,435,522 - 43,485,397 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,765,589 - 41,815,373 (-)NCBINCBI36Build 36hg18NCBI36
Build 342241,760,142 - 41,809,927NCBI
Celera2227,346,102 - 27,395,837 (-)NCBICelera
Cytogenetic Map22q13.2NCBI
HuRef2226,394,153 - 26,443,736 (-)NCBIHuRef
CHM1_12243,395,326 - 43,445,000 (-)NCBICHM1_1
T2T-CHM13v2.02243,520,523 - 43,570,587 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8724849   PMID:10591208   PMID:11054573   PMID:11230166   PMID:12477932   PMID:12529303   PMID:14702039   PMID:15461802   PMID:15489334   PMID:15890843   PMID:16344560   PMID:19767753  
PMID:20379614   PMID:20564319   PMID:21873635   PMID:26186194   PMID:28514442   PMID:29513927   PMID:30021884   PMID:33961781   PMID:34349018   PMID:34782749  


Genomics

Comparative Map Data
TTLL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382243,039,516 - 43,089,391 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2243,039,516 - 43,089,419 (-)EnsemblGRCh38hg38GRCh38
GRCh372243,435,522 - 43,485,397 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362241,765,589 - 41,815,373 (-)NCBINCBI36Build 36hg18NCBI36
Build 342241,760,142 - 41,809,927NCBI
Celera2227,346,102 - 27,395,837 (-)NCBICelera
Cytogenetic Map22q13.2NCBI
HuRef2226,394,153 - 26,443,736 (-)NCBIHuRef
CHM1_12243,395,326 - 43,445,000 (-)NCBICHM1_1
T2T-CHM13v2.02243,520,523 - 43,570,587 (-)NCBIT2T-CHM13v2.0
Ttll1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391583,367,258 - 83,402,675 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1583,367,970 - 83,395,094 (-)EnsemblGRCm39 Ensembl
GRCm381583,483,057 - 83,518,474 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1583,483,769 - 83,510,893 (-)EnsemblGRCm38mm10GRCm38
MGSCv371583,314,199 - 83,341,337 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361583,311,538 - 83,338,643 (-)NCBIMGSCv36mm8
Celera1585,617,197 - 85,644,203 (-)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1539.4NCBI
Ttll1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87116,499,536 - 116,528,833 (-)NCBIGRCr8
mRatBN7.27114,619,509 - 114,648,850 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7114,619,508 - 114,648,761 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7116,374,253 - 116,403,529 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07118,599,670 - 118,629,049 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07118,569,144 - 118,598,511 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07124,338,396 - 124,367,719 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7124,338,395 - 124,367,630 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07124,327,308 - 124,356,639 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47121,420,125 - 121,441,444 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera7110,932,407 - 110,961,694 (-)NCBICelera
Cytogenetic Map7q34NCBI
Ttll1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541328,234,486 - 28,250,688 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541328,234,964 - 28,250,899 (-)NCBIChiLan1.0ChiLan1.0
TTLL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22352,864,209 - 52,912,749 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12255,556,957 - 55,605,725 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02223,924,628 - 23,973,282 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12242,128,224 - 42,174,850 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2242,128,224 - 42,174,850 (-)Ensemblpanpan1.1panPan2
TTLL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11022,456,150 - 22,492,375 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1022,456,146 - 22,488,505 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1022,392,648 - 22,439,139 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01023,200,588 - 23,247,276 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1023,200,588 - 23,247,305 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11022,919,827 - 22,966,313 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01023,239,254 - 23,285,573 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01023,413,992 - 23,460,493 (+)NCBIUU_Cfam_GSD_1.0
Ttll1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049456,091,553 - 6,110,264 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936718869,876 - 884,684 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936718869,901 - 884,708 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TTLL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl55,793,780 - 5,827,633 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.155,793,760 - 5,827,622 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.253,216,125 - 3,250,371 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TTLL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11925,576,525 - 25,616,413 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1925,576,379 - 25,616,328 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604599,827,235 - 99,869,254 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ttll1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247525,883,042 - 5,903,687 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247525,883,039 - 5,901,333 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TTLL1
23 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
NM_012263.4(TTLL1):c.281C>T (p.Pro94Leu) single nucleotide variant Malignant melanoma [RCV000072987] Chr22:43069677 [GRCh38]
Chr22:43465683 [GRCh37]
Chr22:41795627 [NCBI36]
Chr22:22q13.2
not provided
NM_012263.4(TTLL1):c.623C>T (p.Pro208Leu) single nucleotide variant Malignant melanoma [RCV000063924] Chr22:43064205 [GRCh38]
Chr22:43460211 [GRCh37]
Chr22:41790155 [NCBI36]
Chr22:22q13.2
not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4 copy number gain See cases [RCV000135528] Chr22:42197923..47305564 [GRCh38]
Chr22:42593929..47701314 [GRCh37]
Chr22:40923873..46079978 [NCBI36]
Chr22:22q13.2-13.31
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 copy number loss See cases [RCV000136786] Chr22:42493445..50268479 [GRCh38]
Chr22:42889451..50706908 [GRCh37]
Chr22:41219395..49049035 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:42903977-43046322)x1 copy number loss See cases [RCV000138824] Chr22:42903977..43046322 [GRCh38]
Chr22:43299983..43442328 [GRCh37]
Chr22:41629927..41772272 [NCBI36]
Chr22:22q13.2
likely benign
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:42967418-43046247)x3 copy number gain See cases [RCV000140774] Chr22:42967418..43046247 [GRCh38]
Chr22:43363424..43442253 [GRCh37]
Chr22:41693368..41772197 [NCBI36]
Chr22:22q13.2
uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33
pathogenic
GRCh38/hg38 22q13.2(chr22:42726714-43104206)x1 copy number loss Premature ovarian failure [RCV000225230] Chr22:42726714..43104206 [GRCh38]
Chr22:43122720..43500212 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:42661143-43492962)x3 copy number gain See cases [RCV000447751] Chr22:42661143..43492962 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_012263.5(TTLL1):c.750G>A (p.Glu250=) single nucleotide variant not specified [RCV000454416] Chr22:43059525 [GRCh38]
Chr22:43455531 [GRCh37]
Chr22:22q13.2
benign
NM_012263.5(TTLL1):c.1242G>A (p.Ser414=) single nucleotide variant not specified [RCV000454464] Chr22:43039806 [GRCh38]
Chr22:43435812 [GRCh37]
Chr22:22q13.2
benign
NM_012263.5(TTLL1):c.894G>A (p.Pro298=) single nucleotide variant not specified [RCV000454879] Chr22:43051885 [GRCh38]
Chr22:43447891 [GRCh37]
Chr22:22q13.2
benign
NM_012263.5(TTLL1):c.720C>T (p.Leu240=) single nucleotide variant not specified [RCV000455080] Chr22:43063840 [GRCh38]
Chr22:43459846 [GRCh37]
Chr22:22q13.2
benign
NM_012263.5(TTLL1):c.849C>T (p.Asp283=) single nucleotide variant not specified [RCV000455560] Chr22:43059426 [GRCh38]
Chr22:43455432 [GRCh37]
Chr22:22q13.2
benign
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_012263.5(TTLL1):c.577A>G (p.Arg193Gly) single nucleotide variant not specified [RCV004290547] Chr22:43064251 [GRCh38]
Chr22:43460257 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:43472147-43723031)x3 copy number gain not provided [RCV000684465] Chr22:43472147..43723031 [GRCh37]
Chr22:22q13.2
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss Phelan-McDermid syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:43225116-43495351)x1 copy number loss not provided [RCV000847433] Chr22:43225116..43495351 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q13.2(chr22:42724042-43879561)x3 copy number gain not provided [RCV000845848] Chr22:42724042..43879561 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
NM_012263.5(TTLL1):c.824A>G (p.Lys275Arg) single nucleotide variant not provided [RCV000893979] Chr22:43059451 [GRCh38]
Chr22:43455457 [GRCh37]
Chr22:22q13.2
benign
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3 copy number gain not provided [RCV002468433] Chr22:43436847..51188164 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NC_000022.11:g.43032129_50739836del deletion Phelan-McDermid syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.31(chr22:43471921-44241041)x1 copy number loss not provided [RCV001258785] Chr22:43471921..44241041 [GRCh37]
Chr22:22q13.2-13.31
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
Single allele deletion Intellectual disability [RCV001293368] Chr22:42356886..43684002 [GRCh37]
Chr22:22q13.2
pathogenic
Single allele deletion Developmental delay with variable intellectual impairment and behavioral abnormalities [RCV001391668] Chr22:42440000..43780000 [GRCh37]
Chr22:22q13.2
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1 copy number loss Phelan-McDermid syndrome [RCV001801178] Chr22:42321321..51244066 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838) copy number loss not specified [RCV002052757] Chr22:42972719..51197838 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660) copy number loss not specified [RCV002052758] Chr22:43451316..46662660 [GRCh37]
Chr22:22q13.2-13.31
pathogenic
GRCh37/hg19 22q13.2(chr22:42955615-43866280)x1 copy number loss not provided [RCV001834501] Chr22:42955615..43866280 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:43474124-44159427)x3 copy number gain not provided [RCV001834423] Chr22:43474124..44159427 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_012263.5(TTLL1):c.712G>A (p.Val238Ile) single nucleotide variant not specified [RCV004292279] Chr22:43063848 [GRCh38]
Chr22:43459854 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_012263.5(TTLL1):c.670G>A (p.Val224Met) single nucleotide variant not specified [RCV004143453] Chr22:43063890 [GRCh38]
Chr22:43459896 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_012263.5(TTLL1):c.1192A>G (p.Ser398Gly) single nucleotide variant not specified [RCV004137181] Chr22:43039856 [GRCh38]
Chr22:43435862 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_012263.5(TTLL1):c.1001C>T (p.Thr334Met) single nucleotide variant not specified [RCV004242944] Chr22:43046551 [GRCh38]
Chr22:43442557 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_012263.5(TTLL1):c.1081A>G (p.Ile361Val) single nucleotide variant not specified [RCV004137953] Chr22:43046471 [GRCh38]
Chr22:43442477 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_012263.5(TTLL1):c.1229G>A (p.Arg410Gln) single nucleotide variant not specified [RCV004209930] Chr22:43039819 [GRCh38]
Chr22:43435825 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_012263.5(TTLL1):c.585C>A (p.Phe195Leu) single nucleotide variant not specified [RCV004091602] Chr22:43064243 [GRCh38]
Chr22:43460249 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_012263.5(TTLL1):c.767A>G (p.His256Arg) single nucleotide variant not specified [RCV004103337] Chr22:43059508 [GRCh38]
Chr22:43455514 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_012263.5(TTLL1):c.722C>G (p.Thr241Ser) single nucleotide variant not specified [RCV004275192] Chr22:43063838 [GRCh38]
Chr22:43459844 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_012263.5(TTLL1):c.619C>T (p.Arg207Cys) single nucleotide variant not specified [RCV004250445] Chr22:43064209 [GRCh38]
Chr22:43460215 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_012263.5(TTLL1):c.707T>C (p.Met236Thr) single nucleotide variant not specified [RCV004353642] Chr22:43063853 [GRCh38]
Chr22:43459859 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:43225115-43777477)x3 copy number gain not provided [RCV003485246] Chr22:43225115..43777477 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3 copy number gain not specified [RCV003986179] Chr22:39044105..45794212 [GRCh37]
Chr22:22q13.1-13.31
pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1 copy number loss not specified [RCV003986180] Chr22:43107363..51156692 [GRCh37]
Chr22:22q13.2-13.33
pathogenic
NM_012263.5(TTLL1):c.1070C>T (p.Pro357Leu) single nucleotide variant not specified [RCV004479393] Chr22:43046482 [GRCh38]
Chr22:43442488 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_012263.5(TTLL1):c.658C>T (p.Arg220Trp) single nucleotide variant not specified [RCV004479395] Chr22:43063902 [GRCh38]
Chr22:43459908 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_012263.5(TTLL1):c.818G>A (p.Arg273His) single nucleotide variant not specified [RCV004479396] Chr22:43059457 [GRCh38]
Chr22:43455463 [GRCh37]
Chr22:22q13.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1384
Count of miRNA genes:572
Interacting mature miRNAs:643
Transcripts:ENST00000266254, ENST00000331018, ENST00000439248, ENST00000440761, ENST00000445824
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D22S649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372243,449,940 - 43,450,141UniSTSGRCh37
Build 362241,779,884 - 41,780,085RGDNCBI36
Celera2227,360,527 - 27,360,728RGD
Cytogenetic Map22q13.1UniSTS
HuRef2226,408,577 - 26,408,778UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 427 556 883 49 189 22 1353 214 2611 148 968 730 30 159 914
Low 2012 2395 820 552 1732 420 2988 1959 1123 271 491 882 144 1 1045 1859 6 2
Below cutoff 40 23 23 30 23 15 24 1 1 15

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_012263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_027779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF104927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF173935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI369631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL589867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF433080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG911167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA247656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000266254   ⟹   ENSP00000266254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2243,039,516 - 43,089,391 (-)Ensembl
RefSeq Acc Id: ENST00000331018   ⟹   ENSP00000333734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2243,039,776 - 43,075,586 (-)Ensembl
RefSeq Acc Id: ENST00000439248   ⟹   ENSP00000401518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2243,039,644 - 43,089,338 (-)Ensembl
RefSeq Acc Id: ENST00000440761   ⟹   ENSP00000403332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2243,039,669 - 43,089,419 (-)Ensembl
RefSeq Acc Id: NM_012263   ⟹   NP_036395
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382243,039,516 - 43,089,391 (-)NCBI
GRCh372243,435,522 - 43,485,434 (-)RGD
Build 362241,765,589 - 41,815,373 (-)NCBI Archive
Celera2227,346,102 - 27,395,837 (-)RGD
HuRef2226,394,153 - 26,443,736 (-)ENTREZGENE
CHM1_12243,395,326 - 43,445,000 (-)NCBI
T2T-CHM13v2.02243,520,523 - 43,570,587 (-)NCBI
Sequence:
RefSeq Acc Id: NR_027779
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382243,039,516 - 43,089,391 (-)NCBI
GRCh372243,435,522 - 43,485,434 (-)RGD
Celera2227,346,102 - 27,395,837 (-)RGD
HuRef2226,394,153 - 26,443,736 (-)ENTREZGENE
CHM1_12243,395,326 - 43,445,000 (-)NCBI
T2T-CHM13v2.02243,520,523 - 43,570,587 (-)NCBI
Sequence:
RefSeq Acc Id: NP_036395   ⟸   NM_012263
- UniProtKB: Q9NRS9 (UniProtKB/Swiss-Prot),   Q9BR27 (UniProtKB/Swiss-Prot),   B2RDS7 (UniProtKB/Swiss-Prot),   Q9UMU0 (UniProtKB/Swiss-Prot),   O95922 (UniProtKB/Swiss-Prot),   B3KTT1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000266254   ⟸   ENST00000266254
RefSeq Acc Id: ENSP00000333734   ⟸   ENST00000331018
RefSeq Acc Id: ENSP00000401518   ⟸   ENST00000439248
RefSeq Acc Id: ENSP00000403332   ⟸   ENST00000440761
Protein Domains
TTL

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95922-F1-model_v2 AlphaFold O95922 1-423 view protein structure

Promoters
RGD ID:6799883
Promoter ID:HG_KWN:43104
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000331018,   ENST00000343040,   NM_012263,   NR_027779
Position:
Human AssemblyChrPosition (strand)Source
Build 362241,814,989 - 41,815,489 (-)MPROMDB
RGD ID:13604340
Promoter ID:EPDNEW_H28354
Type:initiation region
Name:TTLL1_1
Description:tubulin tyrosine ligase like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382243,089,391 - 43,089,451EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1312 AgrOrtholog
COSMIC TTLL1 COSMIC
Ensembl Genes ENSG00000100271 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000266254 ENTREZGENE
  ENST00000266254.12 UniProtKB/Swiss-Prot
  ENST00000331018.8 UniProtKB/Swiss-Prot
  ENST00000439248 ENTREZGENE
  ENST00000439248.5 UniProtKB/Swiss-Prot
  ENST00000440761.1 UniProtKB/Swiss-Prot
Gene3D-CATH ATP-grasp fold, B domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100271 GTEx
HGNC ID HGNC:1312 ENTREZGENE
Human Proteome Map TTLL1 Human Proteome Map
InterPro TTL/TTLL_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:25809 UniProtKB/Swiss-Prot
NCBI Gene 25809 ENTREZGENE
OMIM 608955 OMIM
PANTHER PTHR12241:SF31 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBULIN POLYGLUTAMYLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TTL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35030 PharmGKB
PROSITE TTL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Glutathione synthetase ATP-binding domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RDS7 ENTREZGENE
  B3KTT1 ENTREZGENE, UniProtKB/TrEMBL
  O95922 ENTREZGENE
  Q9BR27 ENTREZGENE
  Q9NRS9 ENTREZGENE
  Q9UMU0 ENTREZGENE
  TTLL1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RDS7 UniProtKB/Swiss-Prot
  Q9BR27 UniProtKB/Swiss-Prot
  Q9NRS9 UniProtKB/Swiss-Prot
  Q9UMU0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-12-13 TTLL1  TTL family tubulin polyglutamylase complex subunit L1  TTLL1  tubulin tyrosine ligase like 1  Symbol and/or name change 19259463 PROVISIONAL
2015-11-24 TTLL1  tubulin tyrosine ligase like 1    tubulin tyrosine ligase-like family member 1  Symbol and/or name change 5135510 APPROVED
2015-01-20 TTLL1  tubulin tyrosine ligase-like family member 1    tubulin tyrosine ligase-like family, member 1  Symbol and/or name change 5135510 APPROVED