AutismKB 2.0

Annotation Detail for SLC9A1


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Basic Information Top
Gene Symbol:SLC9A1 ( APNH,FLJ42224,NHE1 )
Gene Full Name: solute carrier family 9 (sodium/hydrogen exchanger), member 1
Band: 1p36.11
Quick LinksEntrez ID:6548; OMIM: 107310; Uniprot ID:SL9A1_HUMAN; ENSEMBL ID: ENSG00000090020; HGNC ID: 11071
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
75N-linked (GlcNAc...).
599Phosphoserine (By similarity).
602Phosphoserine (By similarity).
605Phosphoserine (By similarity).
693Phosphoserine (By similarity).
695Phosphothreonine.
697Phosphoserine.
703Phosphoserine.
723Phosphoserine.
726Phosphoserine.
729Phosphoserine.
785Phosphoserine.
787Phosphoserine.
788Phosphoserine.
Location(AA) Modifications Resource
75N-linked (GlcNAc...).Swiss-Prot 53.0
599Phosphoserine (By similarity).Swiss-Prot 53.0
602Phosphoserine (By similarity).Swiss-Prot 53.0
605Phosphoserine (By similarity).Swiss-Prot 53.0
693Phosphoserine (By similarity).Swiss-Prot 53.0
703Phosphoserine (By similarity).Swiss-Prot 53.0
703Phosphoserine (RSK
718Phosphothreonine (MAPK14)Phospho.ELM 6.0
723Phosphoserine (MAPK14)Phospho.ELM 6.0
726Phosphoserine (MAPK14)Phospho.ELM 6.0
729Phosphoserine (MAPK14)Phospho.ELM 6.0
Location(AA) Modification Resource
61O-linkedHMM predict
68Phosphothreonine(CDK)HMM predict
68Phosphothreonine(MAPK)HMM predict
68O-linkedHMM predict
68Phosphothreonine(CDC2)HMM predict
75N-linkedHMM predict
283Phosphotyrosine(Syk)HMM predict
410N-linkedHMM predict
514Phosphothreonine(PKC)HMM predict
517Phosphoserine(PKG)HMM predict
602Phosphoserine(IKK)HMM predict
708Phosphotyrosine(Jak)HMM predict
723Phosphoserine(IKK)HMM predict
723O-linkedHMM predict
726Phosphoserine(IKK)HMM predict
726PhosphoserineHMM predict
726Phosphoserine(MAPK)HMM predict
770Phosphoserine(CK1)HMM predict
770Phosphoserine(IKK)HMM predict
771Phosphoserine(ATM)HMM predict
785Phosphoserine(CDK)HMM predict
785Phosphoserine(CDC2)HMM predict
787Phosphoserine(CK1)HMM predict
788Phosphoserine(ATM)HMM predict
796Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003047
  • Location:chr1 27297893-27353987
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 27354156 27354456 300 319
CTCF CD4SISSRdata 27354156 27354456 300 319
CTCF G2GSE9613 27353805 27354484 679 157
FOXA1 MCF7GSE15244 27362313 27362840 527 8589
FoxA1 MCF7MACSdata 27362246 27362453 207 8362
NFkBII GM12892GSE19485 27353471 27355047 1576 272
NFkBII GM15510GSE19485 27353461 27354952 1491 219
Oct1 HelaGSE14283 27365361 27365403 42 11395
P300 T0-glioblastomaGSE21026 27353942 27354457 515 212
P300 T30-glioblastomaGSE21026 27353715 27355114 1399 427
PHF8 293TGSE20725 27353765 27354617 852 204
PHF8 HeLaGSE20725 27353472 27354598 1126 48
PHF8 Hs68minusFBSGSE20725 27353633 27354672 1039 165
Pol2 GM12878GSE19551 27353485 27354849 1364 180
RARA MCF7GSE15244 27354260 27354484 224 385
Rb QuiescentGSE19898 27354122 27354342 220 245
Rb SenescentGSE19898 27354140 27354353 213 259
TAFII hESGSE17917 27353747 27354453 706 113
TFAP2C MCF7GSE21234 27365341 27365902 561 11634
hScc1 BcellGSE12603 27361267 27361449 182 7371
p130 shRbSenescentGSE19898 27354147 27354334 187 253
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 27296444 27296859 415 1242
CTCF CD4SISSRdata 27296444 27296859 415 1242
CTCF JurkatGSE12889 27296478 27296757 279 1276
CTCF G2GSE9613 27296462 27296685 223 1320
Rb GrowingGSE19898 27290413 27290570 157 7402
SRF GMOGSE8489 27283532 27284139 607 14058
hScc1 BcellGSE12603 27296462 27296685 223 1320
hScc1 CdLSGSE12603 27296462 27296685 223 1320
hScc1 G2GSE9613 27296462 27296685 223 1320
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 27301824 27302127 303 0
CTCF CD4GSE12889 27311113 27311502 389 0
CTCF CD4SISSRdata 27301824 27302127 303 0
CTCF CD4SISSRdata 27311113 27311502 389 0
CTCF G2GSE9613 27298279 27298761 482 0
CTCF G2GSE9613 27301626 27302365 739 0
CTCF G2GSE9613 27304888 27305327 439 0
CTCF G2GSE9613 27305916 27306364 448 0
CTCF G2GSE9613 27307902 27308716 814 0
CTCF G2GSE9613 27316188 27316354 166 0
CTCF G2GSE9613 27317573 27317945 372 0
CTCF G2GSE9613 27321231 27321655 424 0
CTCF G2GSE9613 27329938 27330185 247 0
CTCF G2GSE9613 27335149 27335413 264 0
CTCF G2GSE9613 27348145 27348713 568 0
CTCF G2GSE9613 27352865 27353220 355 0
Fos K562GSE19551 27321662 27322242 580 0
Gata2 K562GSE18868 27314582 27315227 645 0
H3K4me3 colorectalcancer 27353001 27353908 907 0
H3ac HepG2E 27351412 27353908 2496 0
P300 T30-glioblastomaGSE21026 27310733 27311719 986 0
PolII HeLaGSE12783 27352957 27354926 1969 0
RARA MCF7GSE15244 27340430 27341709 1279 0
RARA MCF7GSE15244 27343191 27343695 504 0
RARA MCF7GSE15244 27344751 27345371 620 0
Rb GrowingGSE19898 27311326 27311655 329 0
Rb QuiescentGSE19898 27311158 27311543 385 0
Rb QuiescentGSE19898 27338010 27338150 140 0
Rb SenescentGSE19898 27311139 27311647 508 0
Rb shRbQuiescentGSE19898 27311320 27311616 296 0
TAF k562GSE8489 27352067 27354484 2417 0
TFAP2C MCF7GSE21234 27335832 27337257 1425 0
TFAP2C MCF7GSE21234 27340259 27342107 1848 0
TFAP2C MCF7GSE21234 27343205 27344089 884 0
hScc1 BcellGSE12603 27300377 27300586 209 0
hScc1 BcellGSE12603 27301626 27302624 998 0
hScc1 BcellGSE12603 27307902 27309071 1169 0
hScc1 BcellGSE12603 27317495 27317716 221 0
hScc1 BcellGSE12603 27329496 27330185 689 0
hScc1 BcellGSE12603 27344179 27344533 354 0
hScc1 CdLSGSE12603 27301656 27302428 772 0
hScc1 G2GSE9613 27301686 27302328 642 0
p130 QuiescentGSE19898 27311146 27311616 470 0
p130 QuiescentGSE19898 27318217 27318468 251 0
p130 SenescentGSE19898 27311253 27311725 472 0
p130 shRbQuiescentGSE19898 27311291 27311730 439 0
p130 shRbQuiescentGSE19898 27318265 27318609 344 0
p130 shRbSenescentGSE19898 27311097 27311721 624 0
p130 shRbSenescentGSE19898 27318297 27318612 315 0
Validated miRNA targets Top
Cis-Nats regulation Top

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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