AutismKB 2.0

Annotation Detail for GIT1


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Basic Information Top
Gene Symbol:GIT1 ( - )
Gene Full Name: G protein-coupled receptor kinase interacting ArfGAP 1
Band: 17q11.2
Quick LinksEntrez ID:28964; OMIM: 608434; Uniprot ID:GIT1_HUMAN; ENSEMBL ID: ENSG00000108262; HGNC ID: 4272
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
134Phosphoserine.
224Phosphotyrosine (By similarity).
361Phosphoserine (By similarity).
362Phosphoserine.
364Phosphothreonine.
373Phosphoserine.
375Phosphoserine.
383Phosphotyrosine.
385Phosphoserine.
388Phosphoserine.
392Phosphothreonine.
410Phosphoserine.
508Phosphoserine (By similarity).
545Phosphotyrosine.
554Phosphotyrosine.
561Phosphoserine.
592Phosphoserine.
596Phosphoserine.
598Phosphotyrosine.
601Phosphothreonine.
Location(AA) Modifications Resource
361Phosphoserine (By similarity).Swiss-Prot 53.0
362Phosphoserine (By similarity).Swiss-Prot 53.0
385Phosphoserine.Swiss-Prot 53.0
388Phosphoserine.Swiss-Prot 53.0
388PhosphoserinePhospho.ELM 6.0
508PhosphoserinePhospho.ELM 6.0
545Phosphotyrosine.Swiss-Prot 53.0
545PhosphotyrosinePhospho.ELM 6.0
554Phosphotyrosine.Swiss-Prot 53.0
554PhosphotyrosinePhospho.ELM 6.0
592Phosphoserine.Swiss-Prot 53.0
598Phosphotyrosine.Swiss-Prot 53.0
Location(AA) Modification Resource
140Phosphoserine(ATM)HMM predict
154Phosphoserine(CAMK2)HMM predict
169Phosphothreonine(MAPK)HMM predict
246Phosphotyrosine(INSR)HMM predict
284Phosphotyrosine(Syk)HMM predict
301N-linkedHMM predict
359Phosphoserine(IKK)HMM predict
362Phosphoserine(CDC2)HMM predict
375Phosphoserine(CK2)HMM predict
383Phosphotyrosine(INSR)HMM predict
383Phosphotyrosine(Syk)HMM predict
383SulfotyrosineHMM predict
388Phosphoserine(CK2)HMM predict
400Phosphothreonine(PKA)HMM predict
410Phosphoserine(PKB)HMM predict
414Phosphoserine(ATM)HMM predict
417Phosphoserine(CK1)HMM predict
422Phosphothreonine(PKC)HMM predict
435Phosphothreonine(PKC)HMM predict
447N-linkedHMM predict
480Phosphothreonine(CDK)HMM predict
485O-linkedHMM predict
568Phosphothreonine(MAPK)HMM predict
571Phosphoserine(CDC2)HMM predict
571Phosphoserine(MAPK)HMM predict
571O-linkedHMM predict
577Phosphoserine(ATM)HMM predict
585Phosphoserine(PKA)HMM predict
592Phosphoserine(PKB)HMM predict
592Phosphoserine(IKK)HMM predict
598Phosphotyrosine(INSR)HMM predict
598Phosphotyrosine(Syk)HMM predict
598SulfotyrosineHMM predict
706N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014030
  • Location:chr17 24924619-24940734
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 24942291 24943082 791 1952
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 24931363 24931799 436 0
CTCF CD4SISSRdata 24931363 24931799 436 0
CTCF JurkatGSE12889 24931490 24931826 336 0
CTCF G2GSE9613 24928851 24929098 247 0
CTCF G2GSE9613 24931352 24931861 509 0
Myc K562GSE19551 24931404 24931908 504 0
NFkBII GM10847GSE19485 24939553 24941496 1943 0
P300 T30-glioblastomaGSE21026 24931553 24932068 515 0
PHF8 HeLaGSE20725 24939559 24941456 1897 0
RARG MCF7GSE15244 24937073 24937201 128 0
hScc1 BcellGSE12603 24930069 24930582 513 0
hScc1 BcellGSE12603 24931352 24931861 509 0
hScc1 BcellGSE12603 24932713 24933485 772 0
hScc1 BcellGSE12603 24939829 24940378 549 0
hScc1 CdLSGSE12603 24931316 24931861 545 0
hScc1 CdLSGSE12603 24940147 24940378 231 0
hScc1 G2GSE9613 24931424 24931861 437 0
p130 SenescentGSE19898 24931609 24931931 322 0
p130 shRbSenescentGSE19898 24931612 24931804 192 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
10879 EST chr17 24924619 24925217 353 mRNA GIT1 chr17 24924619 24940735Sense/Antisense (SA) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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